ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1495G>T (p.Asp499Tyr)

dbSNP: rs1928383077
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics Research Program, University of Adelaide RCV001199412 SCV001147046 likely pathogenic Refractory epilepsy with Lennox Gastaut syndrome 2019-12-20 no assertion criteria provided clinical testing

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