ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1682del (p.Pro561fs)

dbSNP: rs1602635656
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000790437 SCV000929764 likely pathogenic Developmental and epileptic encephalopathy, 9 2019-01-11 criteria provided, single submitter clinical testing

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