ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2727C>T (p.Cys909=)

dbSNP: rs886038822
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001179011 SCV001343581 likely benign Cardiomyopathy 2020-02-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451365 SCV002738686 likely benign Cardiovascular phenotype 2021-11-16 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 RCV002558896 SCV002936555 likely benign Hypertrophic cardiomyopathy 2022-03-20 criteria provided, single submitter clinical testing

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