ClinVar Miner

Variants studied for bone sarcoma

Included ClinVar conditions (10):
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 not provided total
32 10 64 7 2 1 1 116

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
CHEK2 12 5 50 1 0 0 0 68
TP53 15 3 6 5 2 0 0 30
RB1 3 0 7 1 0 0 0 11
RECQL4 1 1 0 0 0 0 0 2
AKT1 0 1 0 0 0 0 0 1
ATRX 1 0 0 0 0 0 0 1
CDKN2A 0 0 1 0 0 0 0 1
ERCC2 0 0 0 0 0 0 1 1
TSC2 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign other not provided total
Fulgent Genetics, Fulgent Genetics 26 6 62 7 2 0 0 103
OMIM 4 0 0 0 0 0 0 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 1 1 1 0 0 0 0 3
Database of Curated Mutations (DoCM) 0 1 0 0 0 0 1 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 1 0 0 0 0 2
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 1 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 1 0 0 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 1 0 0 0 0 0 0 1

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