ClinVar Miner

Submissions for variant NG_029843.1:g.23704_55438del

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
Baylor Genetics RCV000240814 SCV000258399 pathogenic Progressive familial intrahepatic cholestasis type 1 2015-12-17 criteria provided, single submitter clinical testing This variant was found in compound heterozygous status with another pathogenic insertion variant in two affected members of a Caucasian family
OMIM RCV003231403 SCV000297938 pathogenic Cholestasis, progressive familial intrahepatic, 5 2016-07-27 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.