ClinVar Miner

Variants in gene PTCH1

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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
483 134 2242 1881 364 30 4466

Condition and significance breakdown #

Total conditions: 43
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Gorlin syndrome 384 64 1259 1432 284 3 3368
Hereditary cancer-predisposing syndrome 87 26 1315 962 52 0 2401
not provided 56 18 319 180 106 2 630
not specified 0 0 38 100 43 22 174
Holoprosencephaly 7 5 2 79 30 49 0 163
PTCH1-related disorder 3 5 45 96 6 1 156
Basal cell carcinoma, susceptibility to, 1 2 0 117 1 0 0 120
Basal cell carcinoma, susceptibility to, 1; Holoprosencephaly 7; Basal cell nevus syndrome 1 3 2 34 14 12 0 64
Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 0 0 35 7 1 0 43
Basal cell nevus syndrome 1 12 8 7 0 11 1 39
Ovarian cancer 0 4 0 0 7 0 11
Holoprosencephaly sequence 0 0 2 7 1 0 10
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
Anophthalmia-microphthalmia syndrome 0 3 0 1 0 0 4
Lung adenocarcinoma 0 0 2 1 0 0 3
Retinoblastoma 0 0 3 0 0 0 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
Congenital hydrocephalus 0 2 0 0 0 0 2
Craniosynostosis syndrome 0 0 2 0 0 0 2
Abnormal cardiovascular system morphology; Cataract; Disproportionate tall stature 0 0 1 0 0 0 1
Basal cell carcinoma 0 0 1 0 0 0 1
Breast carcinoma 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
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
Hirschsprung disease, susceptibility to, 1 0 0 1 0 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
Microform holoprosencephaly 0 0 1 0 0 0 1
Myopia; Intellectual disability; Lens luxation 0 0 1 0 0 0 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
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: 97
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 365 38 1173 1414 250 0 3240
Ambry Genetics 90 28 1289 946 33 0 2386
GeneDx 38 9 206 98 72 0 423
PreventionGenetics, part of Exact Sciences 3 4 45 107 25 0 184
Illumina Laboratory Services, Illumina 0 0 77 46 67 0 162
Quest Diagnostics Nichols Institute San Juan Capistrano 3 2 80 32 44 0 161
Sema4, Sema4 0 0 35 76 22 0 133
Baylor Genetics 1 0 115 1 0 0 117
CeGaT Center for Human Genetics Tuebingen 9 5 21 72 9 0 116
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 17 51 14 0 82
Breakthrough Genomics, Breakthrough Genomics 0 0 7 22 45 0 74
Fulgent Genetics, Fulgent Genetics 1 1 62 7 1 0 72
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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 13 12 19 0 47
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 2 9 13 0 24
ITMI 0 0 0 0 0 22 22
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 0 20 0 0 0 21
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 11 0 4 0 15
Genetic Services Laboratory, University of Chicago 0 0 5 3 6 0 14
Mendelics 6 0 3 3 2 0 14
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 12 1 0 0 14
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 7 7 0 14
OMIM 12 0 0 0 0 0 12
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 9 3 0 12
Institute of Human Genetics, University of Leipzig Medical Center 3 4 4 0 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 8 3 0 11
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 4 0 0 7 0 11
Eurofins Ntd Llc (ga) 1 0 5 1 3 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 8 1 0 10
Revvity Omics, Revvity 2 1 5 0 0 0 8
3billion 3 5 0 0 0 0 8
MGZ Medical Genetics Center 0 6 1 0 0 0 7
CSER _CC_NCGL, University of Washington 0 1 4 2 0 0 7
Paul Sabatier University EA-4555, Paul Sabatier University 0 6 0 1 0 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 4 0 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 1 4 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
Juno Genomics, Hangzhou Juno Genomics, Inc 3 2 0 0 0 0 5
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 3 0 4
ISCA Site 6 0 0 0 1 3 0 4
Oral and Maxillofacial Surgery, Tokyo Medical and Dental University 3 0 0 0 1 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 3 1 0 0 0 0 4
New York Genome Center 0 0 4 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 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
GenomeConnect - Brain Gene Registry 0 0 0 0 0 3 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 0 1 1 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 2 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Undiagnosed Diseases Network, NIH 1 0 1 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 2 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
Klinisk genetik och genomik Research, Gothenburg University 0 0 2 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 1 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 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
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 1 0 0 0 0 2
Hacettepe Pediatric Genetics Laboratory, Hacettepe University 1 1 0 0 0 0 2
MVZ Medizinische Genetik Mainz 0 1 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 1 0 1
Hehr Laboratory, Center for Human Genetics Regensburg 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 0 1 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 0 0 0 0 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 1 0 0 0 0 0 1
ISCA site 1 0 0 1 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 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
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
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 0 0 1 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Department of Molecular Biology and Genetics, Acibadem University 0 0 1 0 0 0 1
Neurosurgery, Yale University School of Medicine 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
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Human Developmental Genetics, Institut Pasteur 0 0 1 0 0 0 1
Molecular Oncology Research Center, Barretos Cancer Hospital 1 0 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 0 1 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
DBGen Ocular Genomics 1 0 0 0 0 0 1
Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 1 0 0 0 0 0 1

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