ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=)

gnomAD frequency: 0.00942  dbSNP: rs56307810
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079612 SCV000111494 benign not specified 2013-06-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079612 SCV000194438 likely benign not specified 2015-07-29 criteria provided, single submitter clinical testing
Invitae RCV000234669 SCV000286300 benign Developmental and epileptic encephalopathy, 9 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311590 SCV000845908 benign Inborn genetic diseases 2016-04-25 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.
GeneDx RCV001711229 SCV001944899 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000234669 SCV002798424 likely benign Developmental and epileptic encephalopathy, 9 2021-08-31 criteria provided, single submitter clinical testing

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