ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1947G>C (p.Leu649=)

gnomAD frequency: 0.00001  dbSNP: rs757244311
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000946327 SCV001092452 likely benign Hypertrophic cardiomyopathy 2023-06-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001176582 SCV001340605 likely benign Cardiomyopathy 2018-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002409257 SCV002723995 likely benign Cardiovascular phenotype 2018-07-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.

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