ClinVar Miner

Variants studied for central nervous system sarcoma

Included ClinVar conditions (3):
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 not provided total
123 56 2046 2261 115 1 4571

Gene and significance breakdown #

Total genes and gene combinations: 7
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SMARCA4 120 56 2041 2261 115 1 4563
LOC130063552, LOC130063553, LOC130063554, LOC130063555, SMARCA4 1 0 1 0 0 0 2
SMARCB1 0 0 2 0 0 0 2
ANGPTL8, DOCK6, KANK2, LDLR, SMARCA4, SPC24 0 0 1 0 0 0 1
ATRX 1 0 0 0 0 0 1
BRCA2 0 0 1 0 0 0 1
TP53 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 111 43 2009 2245 115 0 4523
Baylor Genetics 3 7 208 0 0 0 218
Fulgent Genetics, Fulgent Genetics 0 0 29 17 0 0 46
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 2 0 15 2 0 0 19
Mendelics 2 0 2 4 1 0 9
OMIM 6 0 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 0 0 0 5
Genetic Services Laboratory, University of Chicago 3 0 0 0 0 0 3
Tampere Brain Tumor Research Consortium, University of Tampere 2 0 0 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 2 0 0 0 0 2
Illumina Laboratory Services, Illumina 0 1 0 0 0 0 1
Donald Williams Parsons Laboratory, Baylor College of Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center 0 1 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 1 0 0 0 0 1
Cancer Genomics Laboratory, Texas Children's Hospital 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 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.