ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.5472G>A (p.Leu1824=)

gnomAD frequency: 0.00001  dbSNP: rs1890959581
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812349 SCV001471555 likely benign not provided 2019-08-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003770438 SCV004616356 likely benign Hypertrophic cardiomyopathy 14 2023-04-07 criteria provided, single submitter clinical testing

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