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
18 4 153 74 14 1 8 246

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
Gorlin syndrome; Medulloblastoma 9 3 95 47 10 0 0 164
Medulloblastoma 2 0 45 15 0 0 0 61
Hereditary cancer-predisposing syndrome 0 0 16 11 5 0 0 32
not specified 0 0 1 9 6 0 8 23
not provided 2 1 5 1 5 0 0 13
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 0 0 0 0 0 2
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
Gorlin syndrome 1 0 0 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: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 9 3 95 47 10 0 0 164
Illumina Clinical Services Laboratory,Illumina 0 0 45 14 0 0 0 59
Ambry Genetics 0 0 16 11 5 0 0 32
GeneDx 2 1 1 9 0 0 0 13
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
Fulgent Genetics 0 0 5 0 0 0 0 5
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 3 1 0 0 0 4
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
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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