ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1569C>A (p.Leu523=)

gnomAD frequency: 0.00001  dbSNP: rs1057520331
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423777 SCV000513798 likely benign not specified 2016-11-29 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 RCV001440884 SCV001643800 likely benign Hypertrophic cardiomyopathy 2022-07-19 criteria provided, single submitter clinical testing

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