ClinVar Miner

Variants in gene combination LOC100507346, PTCH1

See also:
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
39 7 166 89 27 5 293

Condition and significance breakdown #

Total conditions: 16
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Gorlin syndrome 26 4 133 45 21 0 221
Hereditary cancer-predisposing syndrome 6 1 67 44 5 0 123
not provided 6 0 12 22 7 0 45
not specified 0 0 2 15 10 5 27
Holoprosencephaly 7 2 0 6 9 6 0 22
BCC1; Gorlin syndrome; Holoprosencephaly 7 0 0 3 0 0 0 3
Acute myeloid leukemia 0 0 1 0 0 0 1
Anophthalmia - microphthalmia 0 1 0 0 0 0 1
B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged 0 0 1 0 0 0 1
Congenital hydrocephalus 0 1 0 0 0 0 1
Hepatoblastoma 0 0 1 0 0 0 1
Holoprosencephaly sequence 0 0 1 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 0 1
Macrocephalus; Basal cell carcinoma 1 0 0 0 0 0 1
Medulloblastoma 1 0 0 0 0 0 1
See cases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 25 2 130 59 19 0 235
Ambry Genetics 6 1 68 44 4 0 123
GeneDx 6 0 1 12 10 0 29
Illumina Clinical Services Laboratory,Illumina 0 0 7 11 9 0 22
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
Clinical Genomics Lab,St. Jude Children's Research Hospital 1 0 2 0 0 0 3
OMIM 2 0 0 0 0 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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 1 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
Molecular Diagnostics Laboratory, M Health: University of Minnesota 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.