ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.7781A>G (p.Gln2594Arg)

gnomAD frequency: 0.00005  dbSNP: rs777178221
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630603 SCV000751568 likely benign Duchenne muscular dystrophy 2024-11-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437337 SCV004164720 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing DMD: BP4, BS2
Natera, Inc. RCV001829766 SCV002087730 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-10-06 no assertion criteria provided clinical testing

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