ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.252T>C (p.Asp84=) (rs183443533)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549294 SCV000642178 likely benign Familial focal epilepsy with variable foci 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718164 SCV000849026 likely benign Seizures 2017-02-13 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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