ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.919G>A (p.Glu307Lys)

dbSNP: rs1569315225
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680058 SCV000807498 uncertain significance Developmental and epileptic encephalopathy, 9 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory mosaic and de novo in a 14-year-old male with epilepsy (onset at 1y), delays, Asperger syndrome

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