ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.60A>G (p.Thr20=)

gnomAD frequency: 0.00001  dbSNP: rs771449240
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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 RCV001407081 SCV001609048 likely benign Duchenne muscular dystrophy 2024-09-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826207 SCV002093602 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-04-20 no assertion criteria provided clinical testing

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