ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.2250G>A (p.Pro750=)

gnomAD frequency: 0.00002  dbSNP: rs758163770
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV002233513 SCV000764180 likely benign Familial focal epilepsy with variable foci 2024-07-24 criteria provided, single submitter clinical testing
GeneDx RCV001559775 SCV001782073 likely benign not provided 2020-05-04 criteria provided, single submitter clinical testing

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