ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly)

gnomAD frequency: 0.00123  dbSNP: rs191333060
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079607 SCV000111489 likely benign not specified 2015-04-03 criteria provided, single submitter clinical testing
GeneDx RCV000434675 SCV000241933 likely benign not provided 2021-04-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22267240, 19214208)
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000434675 SCV000511395 likely benign not provided 2017-02-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000147080 SCV000559660 likely benign Developmental and epileptic encephalopathy, 9 2024-01-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000079607 SCV000614419 benign not specified 2017-08-02 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000147080 SCV000782229 likely benign Developmental and epileptic encephalopathy, 9 2016-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316236 SCV000851808 benign Inborn genetic diseases 2017-06-27 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
MGZ Medical Genetics Center RCV000147080 SCV002581145 likely benign Developmental and epileptic encephalopathy, 9 2022-07-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000147080 SCV000248449 likely benign Developmental and epileptic encephalopathy, 9 2015-05-22 no assertion criteria provided clinical testing
Bioinformatics Core, Luxembourg Center for Systems Biomedicine RCV000656077 SCV000588353 pathogenic Childhood epilepsy with centrotemporal spikes 2017-01-01 no assertion criteria provided case-control CAADphred>15

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