ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.933G>A (p.Ser311=)

dbSNP: rs374326087
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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 RCV000035685 SCV000059336 likely benign not specified 2010-12-28 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it does not a lter an amino acid residue and is not located near a splice junction.
Labcorp Genetics (formerly Invitae), Labcorp RCV000469858 SCV000558147 likely benign Hypertrophic cardiomyopathy 2024-12-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001190897 SCV001358532 likely benign Cardiomyopathy 2018-12-10 criteria provided, single submitter clinical testing
GeneDx RCV001689584 SCV001909244 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002371822 SCV002687394 likely benign Cardiovascular phenotype 2022-02-22 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 RCV000469858 SCV004834702 likely benign Hypertrophic cardiomyopathy 2024-01-11 criteria provided, single submitter clinical testing

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