ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.10661G>A (p.Arg3554Gln)

gnomAD frequency: 0.00003  dbSNP: rs199974153
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241137 SCV001414132 likely benign Duchenne muscular dystrophy 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828968 SCV002077595 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2020-06-18 no assertion criteria provided clinical testing

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