ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.1321A>G (p.Thr441Ala) (rs199749859)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470363 SCV000558204 likely benign Familial focal epilepsy with variable foci 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720093 SCV000850969 likely benign Seizures 2018-09-10 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification

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