ClinVar Miner

Submissions for variant NM_014804.3(KIAA0753):c.1697C>T (p.Pro566Leu)

gnomAD frequency: 0.28533  dbSNP: rs2304977
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
GeneDx RCV001639724 SCV001848571 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730888 SCV001980985 benign Joubert syndrome 38 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730887 SCV001980986 benign Orofaciodigital syndrome XV 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730889 SCV001980987 benign Short-rib thoracic dysplasia 21 without polydactyly 2021-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001639724 SCV002421057 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001639724 SCV005255392 benign not provided criteria provided, single submitter not provided

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.