ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.2247G>A (p.Pro749=) (rs61731664)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228530 SCV000286367 benign Familial focal epilepsy with variable foci 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000245359 SCV000307091 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711432 SCV000841797 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716140 SCV000846976 benign Seizures 2016-04-27 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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