ClinVar Miner

Submissions for variant NM_001184880.2(PCDH19):c.2790T>C (p.Ala930=)

gnomAD frequency: 0.00022  dbSNP: rs375759744
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703612 SCV000519110 benign not provided 2021-04-16 criteria provided, single submitter clinical testing Has no predicted effect on splicing and the nucleotide is not conserved across species; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000458491 SCV000559645 likely benign Developmental and epileptic encephalopathy, 9 2025-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436262 SCV002751745 benign Inborn genetic diseases 2017-10-27 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.