ClinVar Miner

Variants studied for basal cell carcinoma, susceptibility to, 1

Included ClinVar conditions (6):
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
16 1 158 21 18 214

Gene and significance breakdown #

Total genes and gene combinations: 7
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
PTCH1 3 0 108 8 1 120
PTCH2 1 0 11 7 16 35
LOC100507346, PTCH1 2 0 22 2 0 26
LOC130002133, PTCH1 0 0 13 0 0 13
CCNH, RASA1 8 1 1 1 0 11
RASA1 0 0 3 2 1 6
SMO 2 0 0 1 0 3

Submitter and significance breakdown #

Total submitters: 8
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Baylor Genetics 0 0 99 1 0 100
Fulgent Genetics, Fulgent Genetics 5 0 52 17 3 77
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 3 15 18
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 6 0 0 9
OMIM 8 0 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 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.