ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4353+20C>T

gnomAD frequency: 0.00001  dbSNP: rs199912646
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001678866 SCV001904589 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002073206 SCV002376914 likely benign Hypertrophic cardiomyopathy 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502021 SCV002810694 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 2021-09-17 criteria provided, single submitter clinical testing

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