ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2163C>T (p.Thr721=)

gnomAD frequency: 0.00002  dbSNP: rs397515951
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Total submissions: 6
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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 RCV000035469 SCV000059117 likely benign not specified 2008-03-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001185549 SCV001351798 likely benign Cardiomyopathy 2018-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001487079 SCV001691563 likely benign Hypertrophic cardiomyopathy 2024-12-08 criteria provided, single submitter clinical testing
GeneDx RCV001668152 SCV001888740 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162300 SCV003911241 likely benign Cardiovascular phenotype 2022-11-07 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 RCV001487079 SCV004842387 likely benign Hypertrophic cardiomyopathy 2023-08-28 criteria provided, single submitter clinical testing

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