ClinVar Miner

Submissions for variant NM_001142769.3(PCDH15):c.5295A>G (p.Pro1765=) (rs145178582)

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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214030 SCV000269616 benign not specified 2015-07-02 criteria provided, single submitter clinical testing p.Pro1765Pro in Exon 37A of PCDH15: This variant is not expected to have clinica l significance because it does not alter an amino acid residue, is not located w ithin the splice consensus sequence, and has been identified in 0.9% (76/8364) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs145178582).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000214030 SCV000707210 benign not specified 2017-03-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712513 SCV000843018 benign not provided 2018-05-25 criteria provided, single submitter clinical testing

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.