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
273 62 1101 630 127 26 2017

Condition and significance breakdown #

Total conditions: 35
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Gorlin syndrome 217 29 952 462 104 1 1730
Hereditary cancer-predisposing syndrome 40 9 286 241 22 0 598
not provided 37 11 39 95 30 1 206
Holoprosencephaly 7 3 1 82 31 49 0 164
not specified 0 0 3 78 26 24 117
BCC1; Gorlin syndrome; Holoprosencephaly 7 0 0 18 0 0 0 18
Holoprosencephaly sequence 0 0 2 7 1 0 10
none provided 0 0 0 1 8 0 9
BCC1 1 1 6 0 0 0 8
Inborn genetic diseases 4 2 1 0 0 0 7
See cases 0 0 1 1 3 0 5
Anophthalmia-microphthalmia syndrome 0 3 0 1 0 0 4
Retinoblastoma 0 0 3 0 0 0 3
Basal cell carcinoma, somatic 2 0 0 0 0 0 2
Breast carcinoma 0 0 1 1 0 0 2
Congenital hydrocephalus 0 2 0 0 0 0 2
Craniopharyngioma 0 0 2 0 0 0 2
Craniosynostosis syndrome 0 0 2 0 0 0 2
B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21 0 0 1 0 0 0 1
Basal cell carcinoma 0 0 1 0 0 0 1
Congenital heart disease 0 0 1 0 0 0 1
Fraser syndrome 3 0 0 1 0 0 0 1
Germinoma (disease) 0 0 1 0 0 0 1
Gorlin syndrome; Holoprosencephaly 7 0 0 1 0 0 0 1
Hereditary breast and ovarian cancer syndrome 1 0 0 0 0 0 1
Hirschsprung disease 1 0 0 1 0 0 0 1
Irido-corneo-trabecular dysgenesis 0 1 0 0 0 0 1
Irido-corneo-trabecular dysgenesis; Rieger syndrome 0 1 0 0 0 0 1
Neuroblastoma 0 0 1 0 0 0 1
Pituitary stalk interruption syndrome 0 0 1 0 0 0 1
Polydactyly, preaxial II 0 1 0 0 0 0 1
Rhabdomyosarcoma (disease) 0 1 0 0 0 0 1
Rieger syndrome 0 1 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: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 198 25 881 486 69 0 1659
Ambry Genetics 44 11 287 241 22 0 604
Illumina Clinical Services Laboratory,Illumina 0 0 84 47 69 0 171
GeneDx 31 6 8 74 20 0 139
PreventionGenetics, PreventionGenetics 0 0 0 16 19 0 35
ITMI 0 0 0 0 0 24 24
CeGaT Praxis fuer Humangenetik Tuebingen 2 5 14 1 0 0 22
Integrated Genetics/Laboratory Corporation of America 0 1 1 3 15 0 20
Fulgent Genetics,Fulgent Genetics 0 0 18 0 0 0 18
OMIM 15 0 0 0 0 0 15
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 11 0 4 0 15
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 5 3 4 0 13
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 2 8 0 10
Mendelics 2 0 5 1 0 0 8
CSER _CC_NCGL, University of Washington 0 1 5 2 0 0 8
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 8 0 0 0 8
Paul Sabatier University EA-4555, Paul Sabatier University 0 6 0 1 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 6 0 0 0 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 4 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 2 2 1 0 0 6
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 4 1 1 0 6
Baylor Genetics 2 0 2 0 0 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
Genetic Services Laboratory, University of Chicago 0 0 0 2 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 2 0 0 0 0 0 2
Yale Center for Mendelian Genomics,Yale University 0 2 0 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
Klinisk genetik och genomik Research,Gothenburg University 0 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 1 0 1
Hehr Laboratory,Center for Human Genetics - University of Regensburg 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 1 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
ISCA site 1 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
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
Institute of Human Genetics,University of Wuerzburg 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 1 1
Department of Molecular Biology and Genetics,Istanbul Technical 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
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

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