ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2484G>A (p.Glu828=)

gnomAD frequency: 0.00001  dbSNP: rs765583270
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000864809 SCV001005668 likely benign Hypertrophic cardiomyopathy 2024-08-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001191868 SCV001359785 likely benign Cardiomyopathy 2018-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427118 SCV002742796 likely benign Cardiovascular phenotype 2019-09-24 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 RCV000864809 SCV004839253 likely benign Hypertrophic cardiomyopathy 2023-11-13 criteria provided, single submitter clinical testing

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