ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5468C>G (p.Thr1823Ser)

gnomAD frequency: 0.00001  dbSNP: rs1465595838
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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 RCV001296517 SCV001485483 likely benign Duchenne muscular dystrophy 2024-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835402 SCV002093499 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-08-10 no assertion criteria provided clinical testing

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