ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.1095T>C (p.Asp365=) (rs79070552)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244664 SCV000307085 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000462124 SCV000558183 benign Familial focal epilepsy with variable foci 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711426 SCV000841791 benign not provided 2018-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716132 SCV000846968 benign Seizures 2016-03-02 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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