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
71 38 807 667 66 1 10 1531

Condition and significance breakdown #

Total conditions: 26
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Gorlin syndrome; Medulloblastoma 55 18 518 473 14 0 0 1078
Hereditary cancer-predisposing syndrome 17 4 427 330 24 0 0 792
not provided 6 7 114 43 38 0 1 198
Medulloblastoma 3 0 52 20 9 0 0 83
Familial meningioma 0 2 58 0 8 1 0 69
not specified 0 0 9 25 11 0 8 48
SUFU-related disorder 1 2 5 20 0 0 0 28
Medulloblastoma; Familial meningioma; Joubert syndrome 32; Basal cell nevus syndrome 2 0 0 12 3 2 0 0 17
Gorlin syndrome 2 2 7 0 3 0 0 14
Joubert syndrome 32 2 0 8 0 3 0 0 13
Gorlin syndrome; Medulloblastoma; Familial meningioma; Joubert syndrome 32 0 0 8 0 1 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
Basal cell nevus syndrome 1 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
Gorlin syndrome; Joubert syndrome 32 0 0 0 0 0 0 1 1
Joubert syndrome 32; Basal cell nevus syndrome 2 0 1 0 0 0 0 0 1
Meningioma 0 0 0 1 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
Oculomotor apraxia - Cogan type 0 0 1 0 0 0 0 1
Prostate cancer 0 0 1 0 0 0 0 1
SUFU-related ocular motor apraxia 0 1 0 0 0 0 0 1
See cases 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Labcorp Genetics (formerly Invitae), Labcorp 55 18 518 473 14 0 0 1078
Ambry Genetics 17 4 417 328 23 0 0 789
GeneDx 4 5 85 26 21 0 0 141
Illumina Laboratory Services, Illumina 1 0 52 19 9 0 0 81
Baylor Genetics 0 1 58 0 0 0 0 59
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 27 2 12 0 0 42
Breakthrough Genomics, Breakthrough Genomics 0 0 0 10 23 0 0 33
PreventionGenetics, part of Exact Sciences 0 2 5 20 3 0 0 30
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 5 19 1 0 0 26
CeGaT Center for Human Genetics Tuebingen 2 0 5 17 0 0 0 24
Sema4, Sema4 0 0 13 9 1 0 0 23
Fulgent Genetics, Fulgent Genetics 0 0 17 0 1 0 0 18
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
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 4 2 0 0 9
ITMI 0 0 0 0 0 0 8 8
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 8 0 0 8
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 7 0 0 0 0 7
Genetic Services Laboratory, University of Chicago 0 0 3 3 0 0 0 6
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 1 4 0 0 0 0 6
OMIM 4 0 0 0 0 1 0 5
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
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 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
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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and 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 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
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 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
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 0 1
New York Genome Center 0 1 0 0 0 0 0 1
3billion 0 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 0 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 0 1

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