ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.619C>T (p.Leu207=)

gnomAD frequency: 0.00001  dbSNP: rs965921552
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001190976 SCV001358645 likely benign Cardiomyopathy 2018-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365883 SCV002657380 likely benign Cardiovascular phenotype 2022-06-06 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003770149 SCV004620270 likely benign Hypertrophic cardiomyopathy 2022-12-16 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003770149 SCV005430072 likely benign Hypertrophic cardiomyopathy 2024-06-09 criteria provided, single submitter clinical testing

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