ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3711G>A (p.Gln1237=)

gnomAD frequency: 0.00001  dbSNP: rs1361182615
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001423642 SCV001626223 likely benign Hypertrophic cardiomyopathy 2020-03-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499913 SCV002806275 likely benign Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 2021-10-01 criteria provided, single submitter clinical testing

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