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
29 4 115 59 22 5 198

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Gorlin syndrome 17 2 101 40 15 0 167
Hereditary cancer-predisposing syndrome 6 0 11 16 5 0 38
not specified 0 0 1 15 10 5 26
not provided 6 0 9 2 7 0 22
Holoprosencephaly sequence 0 0 8 3 1 0 12
Basal cell carcinoma, multiple; Gorlin syndrome; Holoprosencephaly 7 0 0 3 0 0 0 3
Holoprosencephaly 7 2 0 0 0 0 0 2
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
Inborn genetic diseases 0 0 1 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: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 16 2 93 37 15 0 163
Ambry Genetics 6 0 12 16 4 0 38
GeneDx 6 0 1 12 10 0 29
Illumina Clinical Services Laboratory,Illumina 0 0 8 3 1 0 12
PreventionGenetics 0 0 0 4 5 0 9
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 5 0 0 0 5
ITMI 0 0 0 0 0 5 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 1 0 1 1 1 0 4
Integrated Genetics/Laboratory Corporation of America 0 0 1 0 2 0 3
Fulgent Genetics,Fulgent Genetics 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
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 Medical Center 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
Vantari Genetics 0 0 0 0 1 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

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