ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3510C>T (p.His1170=)

gnomAD frequency: 0.00002  dbSNP: rs138945423
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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 RCV002552431 SCV003508988 likely benign Duchenne muscular dystrophy 2023-03-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001027928 SCV001190655 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-05-20 no assertion criteria provided clinical testing

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