ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.1752T>C (p.Tyr584=)

gnomAD frequency: 0.00002  dbSNP: rs139391186
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001406454 SCV001608408 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2023-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488222 SCV002796718 likely benign Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 2021-09-23 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.