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
190 50 834 518 120 26 1543

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Gorlin syndrome 126 21 691 288 98 1 1188
Hereditary cancer-predisposing syndrome 39 10 299 228 22 0 598
not provided 35 10 34 95 30 1 198
Holoprosencephaly 7 3 1 77 31 49 0 159
not specified 0 0 2 78 25 24 116
BCC1; Gorlin syndrome; Holoprosencephaly 7 0 0 18 0 0 0 18
Holoprosencephaly sequence 0 0 2 7 1 0 10
Inborn genetic diseases 4 0 1 0 0 0 5
See cases 0 0 1 1 3 0 5
Anophthalmia - microphthalmia 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
Congenital hydrocephalus 0 2 0 0 0 0 2
Craniopharyngioma 0 0 2 0 0 0 2
Craniosynostosis 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
Germinoma (disease) 0 0 1 0 0 0 1
Gorlin syndrome; Holoprosencephaly 7 0 0 1 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
Polydactyly, preaxial II 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

Submitter and significance breakdown #

Total submitters: 41
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 107 19 623 343 61 0 1153
Ambry Genetics 43 10 300 228 22 0 602
Illumina Clinical Services Laboratory,Illumina 0 0 81 47 69 0 168
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
Integrated Genetics/Laboratory Corporation of America 0 0 0 3 15 0 18
Fulgent Genetics,Fulgent Genetics 0 0 18 0 0 0 18
CeGaT Praxis fuer Humangenetik Tuebingen 1 4 12 1 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
Mendelics 2 0 5 1 0 0 8
CSER _CC_NCGL, University of Washington 0 1 5 2 0 0 8
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 5 0 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 4 0 0 6
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
Baylor Genetics 2 0 0 0 0 0 2
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
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 Genetic Testing 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
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
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 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 Pediatrics,The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University 0 1 0 0 0 0 1

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