ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2895G>A (p.Gln965=)

gnomAD frequency: 0.00004  dbSNP: rs1057524069
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000419170 SCV000534465 likely benign not specified 2016-12-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000545668 SCV000623571 likely benign Hypertrophic cardiomyopathy 2023-07-31 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001191104 SCV001358799 likely benign Cardiomyopathy 2019-07-02 criteria provided, single submitter clinical testing

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