ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.3320G>A (p.Arg1107His)

gnomAD frequency: 0.00005  dbSNP: rs200021840
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000869998 SCV001011464 likely benign Developmental and epileptic encephalopathy, 9 2024-07-15 criteria provided, single submitter clinical testing
GeneDx RCV001567109 SCV001790742 likely benign not provided 2019-11-07 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22050978)
Genetic Services Laboratory, University of Chicago RCV001816989 SCV002066445 benign not specified 2017-07-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000869998 SCV002803592 likely benign Developmental and epileptic encephalopathy, 9 2021-07-27 criteria provided, single submitter clinical testing

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