ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.1870+2328C>T (rs16989528)

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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 RCV000244164 SCV000307088 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000459282 SCV000558200 benign Familial focal epilepsy with variable foci 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715823 SCV000846654 benign Seizures 2016-05-26 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.
Athena Diagnostics Inc RCV000991881 SCV001143716 benign not provided 2018-12-26 criteria provided, single submitter clinical testing

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