ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2364-15_2364-14del

gnomAD frequency: 0.00033  dbSNP: rs555557314
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176229 SCV000227846 uncertain significance not provided 2014-06-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000306929 SCV000449404 uncertain significance Jeune thoracic dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000363934 SCV000449405 uncertain significance Cranioectodermal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001518883 SCV001727658 benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2024-01-27 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.