ClinVar Miner

Variants studied for corneogoniodysgenesis

Included ClinVar conditions (8):
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
26 3 19 16 35 99

Gene and significance breakdown #

Total genes and gene combinations: 6
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PXDN 11 0 15 16 35 77
CHRDL1 13 1 2 0 0 16
​intergenic 0 0 2 0 0 2
SIX6 2 0 0 0 0 2
COL11A1 0 1 0 0 0 1
NFIX 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 2 0 13 16 35 66
OMIM 10 0 0 0 0 10
Research Unit for Rare Diseases,1st Faculty of Medicine, Charles University in Prague 7 1 2 0 0 10
Genetics Department, University Hospital of Toulouse 5 0 1 0 0 6
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 0 0 2 0 0 2
Leeds Institute of Medical Research,University of Leeds 2 0 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Institute of Human Genetics,Martin-Luther-Universität Halle-Wittemberg 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Cytogenetics and Genomics Lab,Cyprus Institute Of Neurology and Genetics 1 0 0 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.