ClinVar Miner

Submissions for variant NM_001242896.3(DEPDC5):c.2862C>T (p.Thr954=)

gnomAD frequency: 0.00001  dbSNP: rs1027803497
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000458198 SCV000558188 likely benign Familial focal epilepsy with variable foci 2024-12-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704006 SCV005210352 likely benign not provided criteria provided, single submitter not provided

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