ClinVar Miner

Variants in gene SUFU

Minimum submission review status: Collection method:
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Gene type:
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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
24 9 234 141 24 1 8 409

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Hereditary cancer-predisposing syndrome 3 1 101 55 5 0 0 165
Gorlin syndrome; Medulloblastoma 13 5 132 12 0 0 0 162
not provided 2 3 5 80 24 0 0 110
Medulloblastoma 2 0 45 15 0 0 0 61
not specified 0 0 2 9 6 0 8 23
Gorlin syndrome 1 0 3 1 0 0 0 5
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
JOUBERT SYNDROME 32 2 0 1 0 0 0 0 3
Medulloblastoma with extensive nodularity 2 0 0 0 0 0 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
Meningioma, familial 0 0 0 0 0 1 0 1
microform holoprosencephaly 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 13 5 132 88 11 0 0 249
Ambry Genetics 3 1 101 55 5 0 0 165
Illumina Clinical Services Laboratory,Illumina 0 0 45 14 0 0 0 59
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 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
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
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 1 0 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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 0 0 0 1

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