ClinVar Miner

Variants in gene PTCH1

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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
520 173 2516 2054 373 61 4932

Condition and significance breakdown #

Total conditions: 69
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Gorlin syndrome 403 71 1329 1511 285 3 3543
Hereditary cancer-predisposing syndrome 104 34 1583 1096 57 0 2830
not provided 61 21 398 226 103 4 756
not specified 0 0 65 158 60 22 262
Holoprosencephaly 7 8 2 79 30 49 0 166
PTCH1-related disorder 3 5 46 96 6 1 157
Basal cell carcinoma, susceptibility to, 1 2 0 117 1 0 0 120
Basal cell nevus syndrome 1 18 27 24 0 11 1 80
Basal cell carcinoma, susceptibility to, 1; Holoprosencephaly 7; Basal cell nevus syndrome 1 3 2 35 14 12 0 65
Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 0 0 35 7 1 0 43
Ovarian serous cystadenocarcinoma 0 0 0 0 0 14 14
Ovarian cancer 0 4 0 0 7 0 11
See cases 1 1 4 1 3 0 10
Gorlin syndrome; Holoprosencephaly 7 1 0 2 0 0 2 5
Inborn genetic diseases 3 2 0 0 0 0 5
Neoplasm 0 4 1 0 0 0 5
Anophthalmia-microphthalmia syndrome 0 3 0 1 0 0 4
Medulloblastoma SHH activated 4 0 0 0 0 0 4
Uterine corpus endometrial carcinoma 0 0 0 0 0 4 4
Lung adenocarcinoma 0 0 2 1 0 0 3
Medulloblastoma SHH activated and TP53 wild-type 3 0 0 0 0 0 3
Retinoblastoma 0 0 3 0 0 0 3
Thymoma 0 0 0 0 0 3 3
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 3 3
Basal cell carcinoma, somatic 2 0 0 0 0 0 2
Basal cell carcinoma, susceptibility to, 1; Basal cell nevus syndrome 1 0 0 0 2 0 0 2
Cervical cancer 0 0 0 0 0 2 2
Congenital hydrocephalus 0 2 0 0 0 0 2
Craniosynostosis syndrome 0 0 2 0 0 0 2
Intellectual disability 0 0 1 0 1 0 2
Malignant tumor of esophagus 0 0 0 0 0 2 2
Medulloblastoma WNT activated 0 2 0 0 0 0 2
Melanoma 0 0 0 0 0 2 2
Sarcoma 0 0 0 0 0 2 2
4-5 toe syndactyly; Abnormal eye morphology; Basal cell nevi 0 0 1 0 0 0 1
Abnormal cardiovascular system morphology; Cataract; Disproportionate tall stature 0 0 1 0 0 0 1
Acute myeloid leukemia 0 0 0 0 0 1 1
Basal cell carcinoma 0 0 1 0 0 0 1
Breast carcinoma 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease 0 0 1 0 0 0 1
Congenital heart disease 0 0 1 0 0 0 1
Craniopharyngioma 0 0 1 0 0 0 1
Embryonal rhabdomyosarcoma 0 1 0 0 0 0 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Fraser syndrome 3 0 0 1 0 0 0 1
Germinoma 0 0 1 0 0 0 1
Hereditary breast ovarian cancer syndrome 1 0 0 0 0 0 1
Hereditary cancer 0 0 0 1 0 0 1
Hereditary skin disorder 0 1 0 0 0 0 1
Hirschsprung disease, susceptibility to, 1 0 0 1 0 0 0 1
Holoprosencephaly sequence 0 0 0 1 0 0 1
Irido-corneo-trabecular dysgenesis 0 1 0 0 0 0 1
Irido-corneo-trabecular dysgenesis; Rieger anomaly 0 1 0 0 0 0 1
Lung cancer 0 0 0 0 0 1 1
Lymphoma 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 0 0 0 0 0 1 1
Medulloblastoma 1 0 0 0 0 0 1
Mesothelioma 0 0 0 0 0 1 1
Microform holoprosencephaly 0 0 1 0 0 0 1
Myopia; Intellectual disability; Lens luxation 0 0 1 0 0 0 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Pituitary stalk interruption syndrome 0 0 1 0 0 0 1
Polydactyly of a triphalangeal thumb 0 1 0 0 0 0 1
Rhabdomyosarcoma 0 1 0 0 0 0 1
Rieger anomaly 0 1 0 0 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Turner syndrome 1 0 0 0 0 0 1
Uterine leiomyoma; Hereditary leiomyomatosis and renal cell cancer 0 0 1 0 0 0 1
sellar metastasis from primary bronchial carcinoid tumor 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 119
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 383 43 1245 1499 252 0 3422
Ambry Genetics 107 36 1556 1079 37 0 2815
GeneDx 38 9 228 98 72 0 445
Quest Diagnostics Nichols Institute San Juan Capistrano 3 3 131 52 53 0 242
PreventionGenetics, part of Exact Sciences 3 4 45 107 25 0 184
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 4 41 99 17 0 161
CeGaT Center for Human Genetics Tuebingen 11 6 30 98 9 0 154
Illumina Laboratory Services, Illumina 0 0 75 40 66 0 153
Sema4, Sema4 0 0 35 76 22 0 133
Baylor Genetics 1 0 115 1 0 0 117
Breakthrough Genomics, Breakthrough Genomics 0 0 7 22 45 0 74
Fulgent Genetics, Fulgent Genetics 1 1 62 7 1 0 72
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 2 16 24 21 0 66
KCCC/NGS Laboratory, Kuwait Cancer Control Center 1 1 0 10 37 0 49
Department of Pathology and Laboratory Medicine, Sinai Health System 2 3 11 18 14 0 48
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 11 15 0 31
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 30 30
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 25 0 0 0 26
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 11 7 6 0 0 0 23
Mayo Clinic Laboratories, Mayo Clinic 0 0 10 5 8 0 23
ITMI 0 0 0 0 0 22 22
Genetic Services Laboratory, University of Chicago 0 1 6 3 6 0 16
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 11 0 4 0 15
3billion 3 8 3 0 0 0 14
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 7 7 0 14
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 12 1 0 0 14
Mendelics 6 0 3 3 2 0 14
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 9 3 0 12
OMIM 12 0 0 0 0 0 12
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 8 3 0 11
Institute of Human Genetics, University of Leipzig Medical Center 3 4 4 0 0 0 11
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 4 0 0 7 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 8 1 0 10
Eurofins Ntd Llc (ga) 1 0 5 1 3 0 10
Revvity Omics, Revvity 2 1 6 0 0 0 9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 5 0 0 0 8
CSER _CC_NCGL, University of Washington 0 1 4 2 0 0 7
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 3 4 0 7
MGZ Medical Genetics Center 0 6 1 0 0 0 7
Paul Sabatier University EA-4555, Paul Sabatier University 0 6 0 1 0 0 7
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 1 4 0 6
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 1 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 6 0 0 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 4 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 0 4 0 0 0 5
Dasa 3 0 1 1 0 0 5
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 1 2 0 1 0 4
Department of Pediatric Genetics, University of Health Sciences, Ankara Bilkent City Children’s Hospital 0 4 0 0 0 0 4
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 3 0 4
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 0 0 0 1 3 0 4
ISCA Site 6 0 0 0 1 3 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 4
Molecular Pathology, Peter Maccallum Cancer Centre 1 2 1 0 0 0 4
New York Genome Center 0 0 4 0 0 0 4
Oral and Maxillofacial Surgery, Tokyo Medical and Dental University 3 0 0 0 1 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 2 0 0 0 3
Department of Human Genetics, Hannover Medical School 0 3 0 0 0 0 3
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research 0 0 2 1 0 0 3
MVZ Medizinische Genetik Mainz 0 1 2 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 1 0 0 0 2
CGC Genetics, Unilabs 1 1 0 0 0 0 2
Centre of Medical Genetics, University Hospital Muenster 1 1 0 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 2 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 1 1 0 0 0 0 2
Helix 0 0 2 0 0 0 2
Human Genetics Bochum, Ruhr University Bochum 2 0 0 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 2 0 0 0 0 0 2
Klinisk genetik och genomik Research, Gothenburg University 0 0 2 0 0 0 2
Laboratoire de Génétique Moléculaire, CHU Bordeaux 2 0 0 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 1 0 0 0 2
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 2 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 0 1 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 2 0 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 0 0 0 1
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 0 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 1 0 0 0 1
Department of Molecular Biology and Genetics, Acibadem University 0 0 1 0 0 0 1
Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University 0 1 0 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
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 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 and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 1 0 0 0 0 1
Human Developmental Genetics, Institut Pasteur 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 0 0 0 1
Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 1 0 0 0 0 0 1
Neurosurgery, Yale University School of Medicine 0 0 1 0 0 0 1
Otogenetics 0 0 1 0 0 0 1
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 0 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Variantyx, Inc. 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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