ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.4671+1345G>C

dbSNP: rs531574437
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, Mass General Brigham Personalized Medicine RCV000608202 SCV000712108 benign not specified 2016-05-10 criteria provided, single submitter clinical testing p.Glu1618Asp in exon 37A of PCDH15: This variant is not expected to have clinica l significance because it has been identified in 244/16508 (1.5%) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs531574437).
GeneDx RCV001584417 SCV001811390 likely benign not provided 2018-07-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530738 SCV004733512 benign PCDH15-related disorder 2019-09-20 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.