ClinVar Miner

Submissions for variant NM_018668.5(VPS33B):c.240-1G>C

gnomAD frequency: 0.00001  dbSNP: rs1360462093
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
Fulgent Genetics, Fulgent Genetics RCV005008511 SCV005643427 likely pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive; Cholestasis, progressive familial intrahepatic, 12 2024-01-03 criteria provided, single submitter clinical testing
OMIM RCV002275707 SCV002564414 pathogenic Keratoderma-ichthyosis-deafness syndrome, autosomal recessive 2022-08-18 no assertion criteria provided literature only

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.