ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.1290C>T (p.Pro430=) (rs201202102)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716647 SCV000847489 likely benign Seizures 2016-08-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513601 SCV000609078 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
Invitae RCV000543711 SCV000642149 likely benign Epilepsy, familial focal, with variable foci 1 2017-12-18 criteria provided, single submitter clinical testing

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