ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.5253A>G (p.Lys1751=)

dbSNP: rs1557303579
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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 RCV000630495 SCV000751455 likely benign Duchenne muscular dystrophy 2023-12-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829750 SCV002093520 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-02-09 no assertion criteria provided clinical testing

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