ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.1153C>T (p.Gln385Ter)

dbSNP: rs1928405180
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV002264841 SCV002546232 pathogenic Developmental and epileptic encephalopathy, 9 2022-07-08 criteria provided, single submitter clinical testing

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