ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3177G>T (p.Leu1059=)

dbSNP: rs746453011
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429956 SCV000533098 likely benign not specified 2016-10-27 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 RCV001188445 SCV001355504 likely benign Cardiomyopathy 2019-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059981 SCV002392025 likely benign Hypertrophic cardiomyopathy 2023-09-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488963 SCV002796757 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 2021-10-11 criteria provided, single submitter clinical testing

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