ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.6535A>G (p.Ser2179Gly)

dbSNP: rs1361261157
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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 RCV000691059 SCV000818798 likely benign Duchenne muscular dystrophy 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825344 SCV002090313 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-02-08 no assertion criteria provided clinical testing

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