ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.3324C>T (p.Leu1108=)

dbSNP: rs933857323
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439485 SCV000515532 likely benign not specified 2016-11-04 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000629145 SCV000750061 likely benign Hypertrophic cardiomyopathy 2022-07-19 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001805042 SCV002053100 likely benign Cardiomyopathy 2021-03-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502490 SCV002808444 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 2021-07-23 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001805042 SCV004818034 likely benign Cardiomyopathy 2023-03-09 criteria provided, single submitter clinical testing

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