ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.1014C>T (p.Pro338=)

gnomAD frequency: 0.00005  dbSNP: rs774034064
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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 RCV000462775 SCV000558206 likely benign Familial focal epilepsy with variable foci 2024-10-15 criteria provided, single submitter clinical testing
GeneDx RCV001584182 SCV001819305 likely benign not provided 2020-11-13 criteria provided, single submitter clinical testing

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