ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3967A>T (p.Ile1323Phe)

dbSNP: rs770016783
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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 RCV001322951 SCV001513848 likely benign Duchenne muscular dystrophy 2025-01-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830351 SCV002085383 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-06-08 no assertion criteria provided clinical testing

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