ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1919T>G (p.Leu640Arg)

dbSNP: rs1928358562
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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 RCV001199424 SCV001147058 likely pathogenic Glycine encephalopathy; Developmental and epileptic encephalopathy, 9 2019-12-20 no assertion criteria provided research

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