ClinVar Miner

Submissions for variant NM_001330311.2(DVL1):c.1637del (p.Pro546fs)

dbSNP: rs797044839
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
Mendelics RCV002247612 SCV002519588 pathogenic Autosomal dominant Robinow syndrome 1 2022-05-04 criteria provided, single submitter clinical testing
OMIM RCV000193267 SCV000222662 pathogenic Autosomal dominant Robinow syndrome 2 2015-04-02 no assertion criteria provided literature only
GeneReviews RCV000193267 SCV000243853 not provided Autosomal dominant Robinow syndrome 2 no assertion 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.