ClinVar Miner

Submissions for variant NM_001329943.3(KIAA0586):c.3861G>A (p.Glu1287=)

gnomAD frequency: 0.00021  dbSNP: rs188676684
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000945758 SCV001091810 likely benign Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly 2024-11-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705952 SCV005212098 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003913202 SCV004729722 likely benign KIAA0586-related disorder 2019-05-02 no assertion criteria provided clinical testing This variant is classified as likely 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.