ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3402G>A (p.Lys1134=)

gnomAD frequency: 0.00001  dbSNP: rs587781083
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126992 SCV000170523 benign not specified 2014-01-21 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.
Color Diagnostics, LLC DBA Color Health RCV000776095 SCV000910887 likely benign Cardiomyopathy 2018-04-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000126992 SCV001338510 likely benign not specified 2020-04-12 criteria provided, single submitter clinical testing
Invitae RCV002055688 SCV002335402 likely benign Hypertrophic cardiomyopathy 2021-10-25 criteria provided, single submitter clinical testing

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