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
121 54 2034 2261 115 1 4555

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SMARCA4 118 54 2030 2261 115 1 4548
LOC130063552, LOC130063553, LOC130063554, LOC130063555, SMARCA4 1 0 1 0 0 0 2
SMARCB1 0 0 2 0 0 0 2
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: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 109 43 2006 2245 115 0 4518
Baylor Genetics 2 6 125 0 0 0 133
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
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

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