ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=)

gnomAD frequency: 0.00798  dbSNP: rs61744561
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079605 SCV000111487 benign not specified 2013-02-15 criteria provided, single submitter clinical testing
GeneDx RCV000079605 SCV000170911 benign not specified 2013-01-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000079605 SCV000194425 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV001082647 SCV000559649 benign Developmental and epileptic encephalopathy, 9 2024-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712508 SCV000843013 benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311587 SCV000846930 benign Inborn genetic diseases 2016-03-21 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.
Fulgent Genetics, Fulgent Genetics RCV001082647 SCV002813692 likely benign Developmental and epileptic encephalopathy, 9 2022-05-17 criteria provided, single submitter clinical testing

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