ClinVar Miner

Variants studied for Gorlin syndrome

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
516 93 2339 2258 432 6 5549

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PTCH1 403 71 1329 1511 285 3 3543
PTCH2 3 1 582 372 53 2 1004
LOC100507346, PTCH1 96 18 286 285 62 0 731
LOC130002133, PTCH1 3 1 130 74 29 1 227
LOC130002132, PTCH1 1 0 2 15 0 0 18
SUFU 2 2 7 0 3 0 14
LOC130004614, SUFU 1 0 2 1 0 0 4
AOPEP, FANCC, LOC100507346, LOC105376156, LOC110121043, LOC124310595, LOC124310596, LOC124310597, LOC124310598, LOC124310599, LOC124310600, LOC130002126, LOC130002127, LOC130002128, LOC130002129, LOC130002130, LOC130002131, LOC130002132, LOC130002133, LOC132089731, LOC132089732, LOC132089733, PTCH1 2 0 0 0 0 0 2
FANCC, PTCH1 1 0 1 0 0 0 2
LOC100507346, LOC110121043, LOC130002130, LOC130002131, LOC130002132, LOC130002133, PTCH1 2 0 0 0 0 0 2
ALDOB, ALG2, ANKS6, ANP32B, AOPEP, ASPN, AUH, BAAT, BARX1, BICD2, CARD19, CAVIN4, CCDC180, CDC14B, CENPP, COL15A1, CORO2A, CTSV, CYLC2, ECM2, ERCC6L2, ERP44, FAM120A, FAM120AOS, FANCC, FBP1, FBP2, FGD3, FOXE1, GABBR2, GALNT12, GRIN3A, HABP4, HEMGN, HSD17B3, IARS1, INVS, IPPK, MIR23B, MIR24-1, MIR27B, MIRLET7A1, MIRLET7D, MIRLET7F1, MRPL50, MSANTD3, MSANTD3-TMEFF1, NANS, NCBP1, NFIL3, NINJ1, NOL8, NR4A3, NUTM2F, NUTM2G, OGN, OMD, PGAP4, PHF2, PPP3R2, PRSS47, PRXL2C, PTCH1, PTPDC1, RNF20, ROR2, SEC61B, SLC35D2, SLC71A2, SPTLC1, STX17, SUSD3, TBC1D2, TDRD7, TEX10, TGFBR1, TMEFF1, TMOD1, TRIM14, TRMO, TSTD2, WNK2, XPA, ZNF169, ZNF189, ZNF367, ZNF484, ZNF510, ZNF782 1 0 0 0 0 0 1
AOPEP, CDC14B, ERCC6L2, FANCC, HABP4, HSD17B3, LINC00092, LOC100507346, LOC105376156, LOC105376159, LOC107987103, LOC110121043, LOC110121093, LOC113839574, LOC121331335, LOC121331336, LOC124310592, LOC124310593, LOC124310594, LOC124310595, LOC124310596, LOC124310597, LOC124310598, LOC124310599, LOC124310600, LOC124310601, LOC124310602, LOC124310603, LOC126860686, LOC126860687, LOC126860688, LOC126860689, LOC126860690, LOC130002119, LOC130002120, LOC130002121, LOC130002122, LOC130002123, LOC130002124, LOC130002125, LOC130002126, LOC130002127, LOC130002128, LOC130002129, LOC130002130, LOC130002131, LOC130002132, LOC130002133, LOC130002134, LOC130002135, LOC130002136, LOC130002137, LOC130002138, LOC130002139, LOC130002140, LOC130002141, LOC130002142, LOC130002143, LOC130002144, LOC130002145, LOC130002146, LOC130002147, LOC130002148, LOC130002149, LOC130002150, LOC130002151, LOC130002152, LOC130002153, LOC130002154, LOC130002155, LOC132089729, LOC132089730, LOC132089731, LOC132089732, LOC132089733, LOC132089734, LOC132089735, LOC132089736, LOC132089737, LOC132089738, LOC132089739, LOC132089740, LOC132090794, LOC158434, LOC158435, MIR23B, MIR24-1, MIR27B, MIR3074, MIR6081, PTCH1, SLC35D2, SLC35D2-HSD17B3, ZNF367 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 54
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 483 53 2213 2235 393 0 5377
Illumina Laboratory Services, Illumina 0 0 75 30 77 0 182
KCCC/NGS Laboratory, Kuwait Cancer Control Center 2 1 0 13 36 0 52
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 33 1 0 0 35
Mendelics 8 1 8 3 1 0 21
Baylor Genetics 2 0 16 0 0 0 18
Institute of Human Genetics, University of Leipzig Medical Center 5 7 1 0 0 0 13
Genome-Nilou Lab 0 0 0 0 9 0 9
CSER _CC_NCGL, University of Washington 0 1 5 1 0 0 7
Department of Pathology and Laboratory Medicine, Sinai Health System 1 2 0 3 1 0 7
MGZ Medical Genetics Center 0 6 1 0 0 0 7
3billion 1 5 0 0 0 0 6
Molecular Pathology, Peter Maccallum Cancer Centre 1 2 3 0 0 0 6
Oral and Maxillofacial Surgery, Tokyo Medical and Dental University 4 0 0 0 2 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 3 0 0 0 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 3 0 0 0 5
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 1 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 1 0 0 1 0 0 2
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 1 1 0 0 0 0 2
Helix 0 0 2 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 1 0 0 0 2
OMIM 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 1 0 1 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 2 0 0 0 2
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 1 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Centro Nacional de Genética Medica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS) “Dr. Carlos G Malbrán” 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 1 0 0 0 1
Division of Genetic & Genomic Pathology, Hong Kong Children's Hospital 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Genetic Diagnostic Laboratory, University of Szeged 0 1 0 0 0 0 1
Genetics, Children's Hospital New Orleans 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1
Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1

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