ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4354-6G>A

gnomAD frequency: 0.00009  dbSNP: rs368078397
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424898 SCV000518247 benign not specified 2015-08-24 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 RCV000628852 SCV000749759 likely benign Hypertrophic cardiomyopathy 2024-01-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001177606 SCV001341844 likely benign Cardiomyopathy 2019-11-22 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508723 SCV001715065 uncertain significance not provided 2020-02-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001177606 SCV004824240 likely benign Cardiomyopathy 2024-01-11 criteria provided, single submitter clinical testing

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