ClinVar Miner

Submissions for variant NM_004006.3(DMD):c.3567T>A (p.Thr1189=)

gnomAD frequency: 0.00001  dbSNP: rs370685748
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252052 SCV000309929 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000953917 SCV001100515 likely benign Duchenne muscular dystrophy 2023-08-07 criteria provided, single submitter clinical testing

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