ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2526C>T (p.Tyr842=)

gnomAD frequency: 0.00001  dbSNP: rs373792537
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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 RCV001181826 SCV001347065 likely benign Cardiomyopathy 2019-06-30 criteria provided, single submitter clinical testing
Invitae RCV001477248 SCV001681479 likely benign Hypertrophic cardiomyopathy 2023-05-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163422 SCV003911868 likely benign Cardiovascular phenotype 2023-03-07 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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