ClinVar Miner

Variants studied for basal cell nevus syndrome 1

Included ClinVar conditions (3):
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 not provided total
19 7 56 1 1 1 85

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PTCH1 14 5 35 0 1 1 56
LOC100507346, PTCH1 5 2 4 0 0 0 11
PTCH2 0 0 9 1 0 0 10
LOC130002133, PTCH1 0 0 7 0 0 0 7
SUFU 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 1 1 37 0 0 0 39
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 17 1 0 0 19
OMIM 11 0 0 0 0 0 11
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 0 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 2 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 0 1 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 0 1 0 0 0 0 1

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