ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.1870+3480C>G (rs372975881)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642511 SCV000764196 likely benign Familial focal epilepsy with variable foci 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718007 SCV000848868 likely benign Seizures 2017-01-31 criteria provided, single submitter clinical testing In silico models in agreement (benign);Synonymous alterations with insufficient evidence to classify as benign

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