ClinVar Miner

Variants studied for bone osteosarcoma

Included ClinVar conditions (7):
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
20 3 44 0 0 1 1 69

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance other not provided total
CHEK2 9 1 33 0 0 43
TP53 7 1 4 0 0 12
RB1 2 0 4 0 0 6
TSC2 0 0 1 1 0 2
AKT1 0 1 0 0 0 1
ATRX 1 0 0 0 0 1
CDKN2A 0 0 1 0 0 1
ERCC2 0 0 0 0 1 1
MSH2 0 0 1 0 0 1
RECQL4 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance other not provided total
Fulgent Genetics,Fulgent Genetics 14 2 41 0 0 57
OMIM 4 0 0 0 0 4
Clinical Genomics Lab,St. Jude Children's Research Hospital 1 0 3 0 0 4
Database of Curated Mutations (DoCM) 0 1 0 0 1 2
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 1 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 1

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