ArticleThe oncologist2017
Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory.
Article in The oncologist, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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
24 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Predicting Functional Effects of Synonymous Variants: A Systematic Review and Perspectives.Frontiers in genetics · 2019Pooled it
- Article
- Clinical implications of conflicting variant interpretations in the cancer genetics clinic.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Reasons and Resolutions for Inconsistent Variant Interpretation.Human mutation · 2023Review
- Regulation of Laboratory-Developed Tests in Preventive Oncology: Emerging Needs and Opportunities.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023Review
- Toward More Comprehensive Homologous Recombination Deficiency Assays in Ovarian Cancer, Part 1: Technical Considerations.Cancers · 2022Review
- Genetic testing for homologous recombination repair (HRR) in metastatic castration-resistant prostate cancer (mCRPC): challenges and solutions.Oncotarget · 2021Review
- Local Laboratory Testing of Germline BRCA Mutations vs. Myriad: A Single-Institution Experience in Korea.Diagnostics (Basel, Switzerland) · 2021Article
- SVAD: A genetic database curates non-ischemic sudden cardiac death-associated variants.PloS one · 2020Article
- Impact of a Cancer Gene Variant Reclassification Program Over a 20-Year Period.JCO precision oncology · 2020Article
- Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.Frontiers in genetics · 2020Article
- Genomic variant sharing: a position statement.Wellcome open research · 2019Article
- Implementing the VMC Specification to Reduce Ambiguity in Genomic Variant Representation.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2019Article
- Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.Genome medicine · 2018Article
- ClinVar at five years: Delivering on the promise.Human mutation · 2018Article
- Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.Human mutation · 2018Article
- ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data.Human mutation · 2018Article
- Inherited Cancer in the Age of Next-Generation Sequencing.Biological research for nursing · 2018Review
- Observed frequency and challenges of variant reclassification in a hereditary cancer clinic.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- ClinVar Is a Critical Resource to Advance Variant Interpretation.The oncologist · 2017Article
Corrections and comments
- Commented on byIn Reply.2017
- Commented on by
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThere is a growing move to consult public databases following receipt of a genetic test result from a clinical laboratory; however, the well-documented limitations of these databases call into question how often clinicians will encounter discordant variant classifications that may introduce uncertainty into patient management. Here, we evaluate discordance in MATERIALS AND
methods
resultsFour thousand two hundred and fifty unique
conclusionHere, we show that discrepant classifications between a public database and single reference laboratory potentially account for 26.7% of variants in IMPLICATIONS FOR PRACTICE: With the increasing use of clinical genetic testing for hereditary cancer risk, accurate variant classification is vital to ensuring appropriate medical management. There is a growing move to consult public databases following receipt of a genetic test result from a clinical laboratory; however, we show that up to 26.7% of variants in
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.