ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4953+14G>A

gnomAD frequency: 0.00002  dbSNP: rs758571263
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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 RCV002118968 SCV002449884 likely benign Hypertrophic cardiomyopathy 2023-04-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500223 SCV002812417 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 2021-09-23 criteria provided, single submitter clinical testing

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