ClinVar Miner

Variants in gene SUFU

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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 risk factor not provided total
57 34 655 569 56 1 10 1287

Condition and significance breakdown #

Total conditions: 23
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Gorlin syndrome; Medulloblastoma 46 17 471 419 14 0 0 967
Hereditary cancer-predisposing syndrome 11 4 285 258 16 0 0 565
not provided 5 6 67 36 30 0 1 133
Medulloblastoma 3 0 53 20 9 0 0 84
Familial meningioma 0 1 35 0 5 1 0 42
not specified 0 0 5 9 10 0 8 29
SUFU-related condition 0 1 4 17 0 0 0 22
Gorlin syndrome 2 2 8 0 3 0 0 15
Gorlin syndrome; Medulloblastoma; Familial meningioma; Joubert syndrome 32 0 0 8 0 1 0 0 9
Joubert syndrome 32 2 0 4 0 3 0 0 9
Basal cell nevus syndrome 2 1 1 0 0 0 0 0 2
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified 0 0 1 0 0 0 0 1
Congenital fibrosarcoma 0 1 0 0 0 0 0 1
Craniopharyngioma 0 0 1 0 0 0 0 1
Desmoplastic/nodular medulloblastoma 1 0 0 0 0 0 0 1
Gorlin syndrome; Joubert syndrome 32 0 0 0 0 0 0 1 1
Inborn genetic diseases 0 0 1 0 0 0 0 1
Joubert syndrome 32; Basal cell nevus syndrome 2 0 1 0 0 0 0 0 1
Malignant tumor of prostate 0 0 1 0 0 0 0 1
Microform holoprosencephaly 0 0 1 0 0 0 0 1
Neurodevelopmental disorder 0 1 0 0 0 0 0 1
Oculomotor apraxia 1 0 0 0 0 0 0 1
SUFU-related disorders 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 46 17 471 419 14 0 0 967
Ambry Genetics 11 4 277 256 15 0 0 563
GeneDx 3 5 46 26 21 0 0 101
Illumina Laboratory Services, Illumina 1 0 53 19 9 0 0 82
Baylor Genetics 0 0 36 0 0 0 0 36
PreventionGenetics, part of Exact Sciences 0 1 4 17 3 0 0 25
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 11 2 12 0 0 25
Sema4, Sema4 0 0 13 9 1 0 0 23
CeGaT Center for Human Genetics Tuebingen 2 0 4 10 1 0 0 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 3 2 0 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 2 7 0 0 9
Fulgent Genetics, Fulgent Genetics 0 0 8 0 1 0 0 9
ITMI 0 0 0 0 0 0 8 8
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 7 0 0 0 0 7
OMIM 5 0 0 0 0 1 0 6
Genetic Services Laboratory, University of Chicago 0 0 3 3 0 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 2 3 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 3 0 0 5
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 3 0 0 5
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 1 3 0 0 0 0 5
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 5 0 0 5
Revvity Omics, Revvity 1 0 3 0 0 0 0 4
Institute of Human Genetics, University of Goettingen 2 1 0 0 0 0 0 3
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 1 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 0 3
Mendelics 0 0 2 0 0 0 0 2
Eurofins Ntd Llc (ga) 0 0 2 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics, CHU Rennes 0 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 0 1 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1

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