ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5656-4G>A

gnomAD frequency: 0.00011  dbSNP: rs397516250
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000603580 SCV000729211 likely benign not specified 2018-01-12 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 RCV000772679 SCV000905938 likely benign Cardiomyopathy 2018-05-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000864993 SCV001005888 likely benign Hypertrophic cardiomyopathy 2023-10-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491293 SCV002803649 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 2021-08-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533251 SCV004747528 likely benign MYH7-related disorder 2022-06-22 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV000772679 SCV004826894 likely benign Cardiomyopathy 2023-10-02 criteria provided, single submitter clinical testing

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