ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5449-12_5449-10del

dbSNP: rs745728411
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000231829 SCV000288057 likely benign Duchenne muscular dystrophy 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001697582 SCV000724364 likely benign not provided 2022-08-22 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Natera, Inc. RCV001833244 SCV002093502 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-07-19 no assertion criteria provided clinical testing

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