ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2400C>T (p.Ser800=)

dbSNP: rs142115986
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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 RCV000630602 SCV000751567 likely benign Duchenne muscular dystrophy 2024-02-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829765 SCV002089732 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2021-03-18 no assertion criteria provided clinical testing

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