ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.1813-3C>A

gnomAD frequency: 0.00003  dbSNP: rs181399181
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000295793 SCV000332290 likely benign not specified 2015-06-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001085029 SCV000560821 benign Duchenne muscular dystrophy 2025-01-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833310 SCV002092231 likely benign Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency 2017-10-16 no assertion criteria provided clinical testing

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