ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.2528A>T (p.Glu843Val)

gnomAD frequency: 0.00002  dbSNP: rs202167701
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990707 SCV001141733 likely benign Duchenne muscular dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000990707 SCV004329546 likely benign Duchenne muscular dystrophy 2023-10-14 criteria provided, single submitter clinical testing

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