ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.877A>G (p.Lys293Glu)

gnomAD frequency: 0.00001  dbSNP: rs960307751
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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 RCV000630563 SCV000751528 likely benign Duchenne muscular dystrophy 2023-06-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834994 SCV002090454 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-04-27 no assertion criteria provided clinical testing

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