ClinVar Miner

Variants studied for Gorlin syndrome

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 not provided total
133 20 737 120 14 1 1019

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PTCH1 109 15 553 100 8 1 782
LOC100507346, PTCH1 17 4 99 8 2 0 130
PTCH2 2 1 82 11 4 0 98
SUFU 1 0 3 1 0 0 5
LOC100507346, LOC110121043, PTCH1 2 0 0 0 0 0 2
AOPEP, CDC14B, ERCC6L2, FANCC, HABP4, HSD17B3, LINC00092, LINC00476, LOC100507346, LOC101928119, LOC110121043, LOC110121093, LOC113839574, LOC158434, LOC158435, MIR23B, MIR24-1, MIR27B, MIR3074, MIR6081, PTCH1, SLC35D2, ZNF367 1 0 0 0 0 0 1
AOPEP, FANCC, LOC100507346, LOC110121043, PTCH1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 107 15 682 63 7 0 874
Illumina Clinical Services Laboratory,Illumina 0 0 50 53 5 0 108
Mendelics 3 1 10 3 0 0 17
OMIM 13 0 0 0 0 0 13
CSER _CC_NCGL, University of Washington 0 1 5 1 0 0 7
Oral and Maxillofacial Surgery,Tokyo Medical and Dental University 4 0 0 0 2 0 6
Baylor Genetics 2 0 0 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 2 0 0 0 0 0 2
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 1 0 0 0 1
Genetic Diagnostic Laboratory,University of Szeged 0 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 0 0 0 0 1
Genetics,Children's Hospital New Orleans 0 0 1 0 0 0 1

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