ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.1129+11del

gnomAD frequency: 0.00040  dbSNP: rs142477754
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 RCV001514303 SCV001722112 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-23 criteria provided, single submitter clinical testing
GeneDx RCV002246394 SCV002520150 likely benign not provided 2020-07-27 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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.