ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5280G>A (p.Thr1760=)

gnomAD frequency: 0.00003  dbSNP: rs374803185
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610525 SCV000716270 likely benign not specified 2017-02-28 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 RCV001181868 SCV001347113 likely benign Cardiomyopathy 2019-12-09 criteria provided, single submitter clinical testing
Invitae RCV001393100 SCV001594754 likely benign Hypertrophic cardiomyopathy 2023-07-03 criteria provided, single submitter clinical testing

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