ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.9642G>C (p.Lys3214Asn)

gnomAD frequency: 0.00001  dbSNP: rs1341389139
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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 RCV001216325 SCV001388116 likely benign Duchenne muscular dystrophy 2022-11-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828720 SCV002077652 uncertain significance Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2019-05-17 no assertion criteria provided clinical testing

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