ClinVar Miner

Variants in gene PTCH2

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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 total
5 1 213 109 35 355

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Gorlin syndrome 3 1 205 95 35 334
not provided 0 0 11 19 0 30
BCC1; Gorlin syndrome; Medulloblastoma 0 0 4 0 0 4
BCC1 0 0 2 0 0 2
Oromandibular-limb hypogenesis spectrum 0 0 0 2 0 2
not specified 0 0 0 1 1 2
Basal cell carcinoma, somatic 1 0 0 0 0 1
Medulloblastoma 1 0 0 0 0 1
See cases 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 0 200 104 35 339
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 7 2 1 10
Baylor Genetics 1 0 7 0 0 8
Fulgent Genetics,Fulgent Genetics 0 0 4 0 0 4
OMIM 3 0 0 0 0 3
Mendelics 0 0 2 1 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 1 0 3
GeneDx 1 0 1 0 0 2
CHU Sainte-Justine Research Center,University of Montreal 0 0 0 2 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 1 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Genetics,Children's Hospital New Orleans 0 0 1 0 0 1

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