ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.1905A>G (p.Leu635=) (rs16989536)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471936 SCV000558207 benign Familial focal epilepsy with variable foci 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716631 SCV000847473 benign Seizures 2016-08-04 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;Synonymous alterations with insufficient evidence to classify as benign

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