ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.2273A>G (p.Tyr758Cys) (rs773004067)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000859958 SCV000546541 likely benign Familial focal epilepsy with variable foci 2019-10-25 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000475696 SCV000896959 uncertain significance Epilepsy, familial focal, with variable foci 1 2018-10-31 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252468 SCV001428225 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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