ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.8355G>A (p.Lys2785=)

gnomAD frequency: 0.00001  dbSNP: rs772646759
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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 RCV000630626 SCV000751591 likely benign Duchenne muscular dystrophy 2023-02-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835004 SCV002087682 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-10-30 no assertion criteria provided clinical testing

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