ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.1355C>T (p.Ala452Val) (rs202226316)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000858452 SCV000642151 benign Familial focal epilepsy with variable foci 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717292 SCV000848141 benign Seizures 2016-10-25 criteria provided, single submitter clinical testing Insufficient evidence;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Intact protein function observed in appropriate functional assay(s);In silico models in agreement (benign)
GeneReviews RCV000254605 SCV000321052 uncertain significance Epilepsy, familial focal, with variable foci 1 2016-04-13 no assertion criteria provided literature only

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