ClinVar Miner

Variants studied for Medulloblastoma

Coded as:
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 other total
20 82 100 22 11 12 242

Gene and significance breakdown #

Total genes and gene combinations: 32
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other total
SUFU 3 0 53 20 9 0 84
ELP1 4 3 26 0 0 0 33
CTNNB1, LOC126806658 1 21 0 0 0 3 21
TP53 0 20 0 0 0 0 20
LOC130004614, SUFU 4 0 9 2 1 0 16
PIK3CA 0 11 0 0 0 0 11
GPR161 1 0 8 0 1 0 10
FBXW7 0 5 0 0 0 0 5
FGFR1 0 5 0 0 0 0 5
IDH1 0 5 0 0 0 0 5
CREBBP 0 4 0 0 0 0 4
BRCA2 3 0 0 0 0 0 3
DDX3X 0 0 0 0 0 3 3
NRAS 0 3 0 0 0 0 3
EP300 0 2 0 0 0 0 2
ARID1A 0 0 0 0 0 1 1
ARID1B 0 0 0 0 0 1 1
BAP1 0 0 1 0 0 0 1
DICER1 0 0 1 0 0 0 1
FOXO3 0 0 0 0 0 1 1
LOC100507346, PTCH1 1 0 0 0 0 0 1
MYCN, MYCNOS 0 1 0 0 0 0 1
NONO 0 0 0 0 0 1 1
PRKAR1A 0 0 0 0 0 1 1
PTCH1 1 0 0 0 0 0 1
PTCH2 1 0 0 0 0 0 1
RB1 0 0 1 0 0 0 1
RET 0 0 1 0 0 0 1
SF3B2 0 1 0 0 0 0 1
SMARCA4 0 0 0 0 0 1 1
SMO 1 0 0 0 0 0 1
WRN 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
Illumina Laboratory Services, Illumina 0 0 62 21 10 0 93
Database of Curated Mutations (DoCM) 1 78 0 0 0 0 79
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 3 3 37 0 0 0 43
OMIM 12 0 0 0 0 0 12
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 12 12
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 2 0 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 1 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 0 0 1
Institute of Human Genetics, University Hospital Muenster 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.