ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.2967C>T (p.Ser989=) (rs775749832)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717225 SCV000848074 likely benign Seizures 2016-10-19 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000866562 SCV001007675 likely benign Familial focal epilepsy with variable foci 2019-12-31 criteria provided, single submitter clinical testing

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