ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1578A>T (p.Ala526=)

gnomAD frequency: 0.00001  dbSNP: rs766721220
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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 RCV000773507 SCV000907201 likely benign Cardiomyopathy 2018-07-10 criteria provided, single submitter clinical testing
Invitae RCV001498325 SCV001703074 likely benign Hypertrophic cardiomyopathy 2021-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397538 SCV002710073 likely benign Cardiovascular phenotype 2022-08-30 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 RCV001498325 SCV004834601 likely benign Hypertrophic cardiomyopathy 2023-08-15 criteria provided, single submitter clinical testing

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