ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.3283A>C (p.Lys1095Gln)

gnomAD frequency: 0.00202  dbSNP: rs140565291
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503789 SCV000595326 benign not specified 2017-06-21 criteria provided, single submitter clinical testing
Invitae RCV000878104 SCV001020954 benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001311013 SCV001501029 likely benign not provided 2020-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001311013 SCV001844275 likely benign not provided 2020-07-05 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731726 SCV001984147 benign Joubert syndrome 23 2020-12-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925468 SCV004742199 benign KIAA0586-related condition 2019-08-28 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.