ClinVar Miner

Submissions for variant NM_006346.4(PIBF1):c.1453C>T (p.Gln485Ter)

gnomAD frequency: 0.00001  dbSNP: rs539010725
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
Institute of Human Genetics, Heidelberg University RCV000735820 SCV000855175 pathogenic Joubert syndrome 33 no assertion criteria provided research The variant is observed as compound heterozygous along with the variant at Chr13:73482688 in the PIBF1 gene.
OMIM RCV000735820 SCV001438710 pathogenic Joubert syndrome 33 2020-10-26 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.