ClinVar Miner

Variants studied for basal cell carcinoma, susceptibility to

Included ClinVar conditions (10):
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 risk factor total
32 4 164 26 20 1 247

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
PTCH1 3 0 108 8 1 0 120
PTCH2 3 0 11 7 16 0 37
TP53 14 3 6 5 2 1 31
LOC100507346, PTCH1 2 0 22 2 0 0 26
LOC130002133, PTCH1 0 0 13 0 0 0 13
CCNH, RASA1 8 1 1 1 0 0 11
RASA1 0 0 3 2 1 0 6
SMO 2 0 0 1 0 0 3

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Fulgent Genetics, Fulgent Genetics 18 2 58 22 5 0 105
Baylor Genetics 0 0 99 1 0 0 100
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 3 15 0 18
OMIM 8 0 0 0 0 1 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 2 1 6 0 0 0 9
Institute of Human Genetics, University of Leipzig Medical Center 2 0 1 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili 1 0 0 0 0 0 1

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