ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.3261+12G>A

gnomAD frequency: 0.00076  dbSNP: rs137960733
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000241952 SCV000314587 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058360 SCV002339070 benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2024-01-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244699 SCV002514816 benign Cranioectodermal dysplasia 4 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244698 SCV002514817 benign Nephronophthisis 13 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244700 SCV002514818 benign Senior-Loken syndrome 8 2021-12-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244697 SCV002514821 benign Asphyxiating thoracic dystrophy 5 2021-12-05 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.