ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.2620G>T (p.Glu874Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV004759564 SCV005368236 pathogenic Developmental and epileptic encephalopathy, 9 2024-07-23 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS2_MOD,PM2

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