Variants studied for bone osteosarcoma

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	6	50	1	0	0	0	69
TP53	15	3	6	5	2	0	0	30
RB1	3	0	7	1	0	0	0	11
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
RECQL4	1	0	0	0	0	0	0	1
TSC2	0	0	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 11

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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
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
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	1	0	1	0	0	0	0	2
Donald Williams Parsons Laboratory, Baylor College of Medicine	0	0	0	0	0	1	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	1	0	0	0	0	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 Centre For Genomic Medicine, NCGM	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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