ClinVar Miner

Submissions for variant NM_001242897.2(DEPDC5):c.146+5G>A (rs748264035)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457248 SCV000558208 likely benign Familial focal epilepsy with variable foci 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718525 SCV000849389 likely benign Seizures 2020-06-03 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification

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