ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.3405A>G (p.Lys1135=)

dbSNP: rs1555972516
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501255 SCV000596245 uncertain significance not specified 2015-09-17 criteria provided, single submitter clinical testing
Invitae RCV001436183 SCV001639018 likely benign Developmental and epileptic encephalopathy, 9 2022-11-10 criteria provided, single submitter clinical testing

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