ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2551A>C (p.Asn851His)

gnomAD frequency: 0.00001  dbSNP: rs753665097
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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 RCV000464830 SCV000550287 likely benign Duchenne muscular dystrophy 2023-08-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489061 SCV002780892 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 2021-11-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833584 SCV002089711 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-07-15 no assertion criteria provided clinical testing

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