ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.3099G>C (p.Val1033=)

gnomAD frequency: 0.00001  dbSNP: rs776701394
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001512239 SCV001719620 benign Familial focal epilepsy with variable foci 2023-03-20 criteria provided, single submitter clinical testing

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