ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5026-7A>G

gnomAD frequency: 0.00010  dbSNP: rs398123976
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630616 SCV000751581 benign Duchenne muscular dystrophy 2024-05-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826751 SCV002093547 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-11-25 no assertion criteria provided clinical testing

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