ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3003C>T (p.Pro1001=)

gnomAD frequency: 0.00005  dbSNP: rs397515996
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035548 SCV000059198 likely benign not specified 2007-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000863844 SCV001004566 likely benign Hypertrophic cardiomyopathy 2024-01-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001180863 SCV001345904 likely benign Cardiomyopathy 2019-03-24 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000035548 SCV001437401 likely benign not specified 2020-09-06 criteria provided, single submitter clinical testing
GeneDx RCV001711365 SCV001940799 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433493 SCV002748845 likely benign Cardiovascular phenotype 2019-05-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV000863844 SCV004836677 likely benign Hypertrophic cardiomyopathy 2024-01-11 criteria provided, single submitter clinical testing

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