ArticleHuman mutation2022
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Article in Human mutation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
23 citing papers in PubMed, 35 citations in OpenAlex.
- The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher GenesInternational journal of molecular sciences · 2021Trial
- Genetic profiles and hematological characteristics of the α-Hb variant Hb Chumphae (HBA2:c.32T>A) in association with -Hematology, transfusion and cell therapy · 2026Article
- Genetic Testing in Inherited Retinal Disease: Current Strategies and Future Directions.Journal of personalized medicine · 2026Review
- Mapping Current and Emerging Laboratory Techniques for Haemoglobinopathy Carrier Detection and Prevention: A Narrative Review from the HELIOS Action.International journal of molecular sciences · 2026Review
- ACMG/AMP-Based Variant Classification of a Novel HBA2 Variant (HBA2: C.297del, Hb Taiping) in Compound Heterozygosity With Hb Adana (HBA2:C.179G>A) Causing Non-Deletional Hb H Disease.International journal of laboratory hematology · 2026Article
- Article
- Genotypic distribution and molecular spectrum of rare and novel thalassemia variants in Ganzhou, southern China.Frontiers in molecular biosciences · 2026Article
- Genotype-Phenotype Correlation of Seven Known and Novel β-Globin Gene Variants.International journal of molecular sciences · 2025Article
- Hemoglobin Variants as Targets for Stabilizing Drugs.Molecules (Basel, Switzerland) · 2025Review
- Global Globin Network and adopting genomic variant database requirements for thalassemia.Database : the journal of biological databases and curation · 2024Article
- Pharmacogenomics of Drugs Used in β-Thalassemia and Sickle-Cell Disease: From Basic Research to Clinical Applications.International journal of molecular sciences · 2024Review
- Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia.Biomedicines · 2024Article
- Progress and harmonization of gene editing to treat human diseases: Proceeding of COST Action CA21113 GenE-HumDi.Molecular therapy. Nucleic acids · 2023Review
- IthaPhen: An Interactive Database of Genotype-Phenotype Data for Hemoglobinopathies.HemaSphere · 2023Article
- A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction.Frontiers in molecular biosciences · 2023Article
- Editorial: Insights in thalassemia: from genomics to clinical practice.Frontiers in pediatrics · 2023Article
- Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency.Frontiers in medicine · 2023Article
- A Novel Tool for the Analysis and Detection of Copy Number Variants Associated with Haemoglobinopathies.International journal of molecular sciences · 2022Article
- Article
- Expanding ACMG variant classification guidelines into a general framework.Human genomics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 7 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Accurate and consistent interpretation of sequence variants is integral to the delivery of safe and reliable diagnostic genetic services. To standardize the interpretation process, in 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published a joint guideline based on a set of shared standards for the classification of variants in Mendelian diseases. The generality of these standards and their subjective interpretation between laboratories has prompted efforts to reduce discordance of variant classifications, with a focus on the expert specification of the ACMG/AMP guidelines for individual genes or diseases. Herein, we describe our experience as a ClinGen Variant Curation Expert Panel to adapt the ACMG/AMP criteria for the classification of variants in three globin genes (HBB, HBA2, and HBA1) related to recessively inherited hemoglobinopathies, including five evidence categories, as use cases demonstrating the process of specification and the underlying rationale.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.