ClinVar Miner

Submissions for variant NM_014023.4(WDR37):c.386C>G (p.Ser129Cys)

dbSNP: rs1589088702
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
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health RCV000855659 SCV000920633 likely pathogenic Congenital cerebellar hypoplasia; Epilepsy; Congenital ocular coloboma; Intellectual disability; Dysmorphism; Developmental delay 2019-05-06 criteria provided, single submitter research
OMIM RCV000855665 SCV000998804 pathogenic Neurooculocardiogenitourinary syndrome 2019-11-05 no assertion criteria provided literature only

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.