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
145 33 490 354 67 26 981

Condition and significance breakdown #

Total conditions: 24
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Gorlin syndrome 87 14 433 263 55 1 816
Hereditary cancer-predisposing syndrome 31 7 73 85 21 0 217
not specified 0 0 2 78 25 24 116
Holoprosencephaly sequence 0 0 42 51 4 0 97
not provided 32 6 27 6 17 1 85
Basal cell carcinoma, multiple; Gorlin syndrome; Holoprosencephaly 7 0 0 18 0 0 0 18
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
Holoprosencephaly 7 3 1 0 0 0 0 4
Retinoblastoma 0 0 3 0 0 0 3
Basal cell carcinoma, somatic 2 0 0 0 0 0 2
Craniopharyngioma 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 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
Rieger syndrome 0 1 0 0 0 0 1
Uterine leiomyoma; Multiple cutaneous leiomyomas 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 69 12 394 213 50 0 738
Ambry Genetics 35 7 74 85 21 0 222
GeneDx 29 6 8 61 7 0 111
Illumina Clinical Services Laboratory,Illumina 0 0 42 50 4 0 96
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 0 0 18 0 0 0 18
OMIM 15 0 0 0 0 0 15
Biesecker Lab/Human Development 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
CSER_CC_NCGL; University of Washington Medical Center 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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 1 4 0 0 6
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 0 0 0 4
Baylor Miraca Genetics Laboratories, 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 2 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
Institute of Human Genetics,Klinikum rechts der Isar 1 0 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
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

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