ClinVar Miner

Variants in gene combination LOC130004614, SUFU

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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
13 2 105 63 10 177

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Gorlin syndrome; Medulloblastoma 11 0 66 38 2 117
Hereditary cancer-predisposing syndrome 4 2 58 48 3 112
not provided 1 0 15 8 4 26
Medulloblastoma 4 0 9 2 1 16
Familial meningioma 0 0 14 0 0 14
Medulloblastoma; Familial meningioma; Joubert syndrome 32; Basal cell nevus syndrome 2 0 0 5 2 0 7
not specified 0 0 2 4 2 7
Gorlin syndrome 1 0 2 1 0 4
SUFU-related disorder 0 0 0 1 1 2
Basal cell nevus syndrome 2 1 0 0 0 0 1
Joubert syndrome 32 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 11 0 66 38 2 117
Ambry Genetics 4 2 55 48 3 112
GeneDx 0 0 10 6 3 19
Baylor Genetics 1 0 14 0 0 15
Illumina Laboratory Services, Illumina 0 0 9 2 1 12
Breakthrough Genomics, Breakthrough Genomics 0 0 2 2 3 7
CeGaT Center for Human Genetics Tuebingen 0 0 1 4 0 5
Sema4, Sema4 0 0 3 1 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 1 2 4
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 2 1 1 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 2 0 4
OMIM 3 0 0 0 0 3
Fulgent Genetics, Fulgent Genetics 0 0 3 0 0 3
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 3 0 0 3
PreventionGenetics, part of Exact Sciences 0 0 0 1 1 2
Mendelics 0 0 1 1 0 2
Revvity Omics, Revvity 0 0 1 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 1 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 1

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