ClinVar Miner

Variants in gene 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 risk factor not provided total
38 11 389 181 33 1 8 622

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Gorlin syndrome; Medulloblastoma 30 6 292 113 11 0 0 452
Hereditary cancer-predisposing syndrome 3 1 99 57 5 0 0 165
Medulloblastoma 2 0 62 22 10 0 0 95
not provided 3 3 6 30 14 0 0 54
not specified 0 0 2 9 6 0 8 23
Gorlin syndrome 1 1 8 1 0 0 0 10
Joubert syndrome 32 2 0 4 0 0 0 0 6
Gorlin syndrome; Medulloblastoma; Meningioma, familial; Joubert syndrome 32 0 0 5 0 0 0 0 5
Medulloblastoma, desmoplastic 4 0 0 0 0 0 0 4
Medulloblastoma with extensive nodularity 2 0 0 0 0 0 0 2
Meningioma, familial 0 0 1 0 0 1 0 2
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified 0 0 1 0 0 0 0 1
Craniopharyngioma 0 0 1 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
SUFU-related disorders 1 0 0 0 0 0 0 1
none provided 0 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 30 6 292 125 11 0 0 464
Ambry Genetics 3 1 99 57 5 0 0 165
Illumina Clinical Services Laboratory,Illumina 1 0 62 21 10 0 0 94
GeneDx 2 3 1 12 9 0 0 27
OMIM 8 0 0 0 0 1 0 9
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 8 0 0 8
ITMI 0 0 0 0 0 0 8 8
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 4 1 1 0 0 6
Baylor Genetics 0 0 5 0 0 0 0 5
Fulgent Genetics,Fulgent Genetics 0 0 5 0 0 0 0 5
Mendelics 0 0 3 1 0 0 0 4
PreventionGenetics, PreventionGenetics 0 0 0 0 3 0 0 3
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 0 1 0 0 0 2
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 2 0 0 0 0 2
Science for Life laboratory, Karolinska Institutet 0 0 1 0 0 0 0 1
Developmental Genetics Unit,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
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 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 0 1

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