ClinVar Miner

Variants in gene combination LOC100507346, 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
62 7 197 108 28 5 366

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Gorlin syndrome 46 5 162 76 22 0 302
Hereditary cancer-predisposing syndrome 6 1 66 45 5 0 123
not provided 8 0 12 22 7 0 47
not specified 0 0 2 15 10 5 27
Holoprosencephaly 7 2 0 7 9 6 0 23
BCC1; Gorlin syndrome; Holoprosencephaly 7 0 0 3 0 0 0 3
Inborn genetic diseases 2 0 1 0 0 0 3
Acute myeloid leukemia 0 0 1 0 0 0 1
Anophthalmia-microphthalmia syndrome 0 1 0 0 0 0 1
BCC1 1 0 0 0 0 0 1
Congenital hydrocephalus 0 1 0 0 0 0 1
Holoprosencephaly sequence 0 0 1 0 0 0 1
Medulloblastoma 1 0 0 0 0 0 1
PTCH1-related disorders 0 0 1 0 0 0 1
Precocious puberty; Overgrowth; Macrocephalus; Postaxial polydactyly 1 0 0 0 0 0 1
See cases 1 0 0 0 0 0 1
none provided 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 44 3 157 84 20 0 308
Ambry Genetics 8 1 67 45 4 0 125
GeneDx 6 0 1 12 10 0 29
Illumina Clinical Services Laboratory,Illumina 0 0 8 11 9 0 23
PreventionGenetics, PreventionGenetics 0 0 0 4 5 0 9
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 5 0 0 0 5
ITMI 0 0 0 0 0 5 5
Integrated Genetics/Laboratory Corporation of America 0 0 2 0 2 0 4
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 1 1 1 0 4
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 0 0 0 3
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 1 0 1 1 0 0 3
OMIM 2 0 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 1 0 1 0 2
Mendelics 1 1 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 1 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 2 0 0 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Institute of Human Genetics, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Oral and Maxillofacial Surgery,Tokyo Medical and Dental University 0 0 0 0 1 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 1 0 0 0 0 1
Genetic Diagnostic Laboratory,University of Szeged 0 1 0 0 0 0 1
Vantari Genetics 0 0 0 0 1 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 0 0 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 1 0 0 0 0 1
Genetics Department, University Hospital of Toulouse 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 0 1

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