ClinVar Miner

Submissions for variant NM_001006657.1(WDR35):c.3203A>G (p.Tyr1068Cys) (rs541910371)

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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000507380 SCV000605600 likely pathogenic not specified 2017-01-17 criteria provided, single submitter clinical testing
Baylor Miraca Genetics Laboratories, RCV000578488 SCV000807644 uncertain significance Cranioectodermal dysplasia 2 2017-09-01 criteria provided, single submitter clinical testing This variant was previously reported as pathogenic and was found once in our laboratory In trans with another missense variant (H1031Y) in a 6-month-old male with cranioectodermal dysplasia. Heterozygotes would be expected to be asymptomatic carriers.
OMIM RCV000578488 SCV000680472 pathogenic Cranioectodermal dysplasia 2 2018-02-06 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.