ClinVar Miner

Variants studied for Familial hypoplastic, glomerulocystic kidney

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
14 10 18 18 10 68

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HNF1B 14 10 17 18 10 67
PAX2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 6
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 12 15 8 35
Integrated Genetics/Laboratory Corporation of America 0 10 4 4 2 20
OMIM 12 0 0 0 0 12
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 0 1

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.