ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.2528T>C (p.Leu843Pro)

gnomAD frequency: 0.97574  dbSNP: rs1748986
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989234 SCV001139470 benign Joubert syndrome 23 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001517846 SCV001726431 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001725206 SCV001960241 benign not provided 2018-07-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000989234 SCV001980969 benign Joubert syndrome 23 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730744 SCV001980970 benign Short-rib thoracic dysplasia 14 with polydactyly 2021-08-19 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.