ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3198A>C (p.Glu1066Asp)

gnomAD frequency: 0.00001  dbSNP: rs1334068605
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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 RCV000798238 SCV000937841 likely benign Duchenne muscular dystrophy 2024-09-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825567 SCV002088974 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2021-06-08 no assertion criteria provided clinical testing

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