ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.2906-9T>C

gnomAD frequency: 0.00004  dbSNP: rs373248202
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000840714 SCV000982648 likely benign not provided 2018-03-20 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001442081 SCV001645022 likely benign Hypertrophic cardiomyopathy 2024-10-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001442081 SCV004819936 likely benign Hypertrophic cardiomyopathy 2023-05-08 criteria provided, single submitter clinical testing

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