Variants studied for glioblastoma

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	risk factor	other	not provided	total
81	238	73	26	17	2	3	3	442

Gene and significance breakdown #

Total genes and gene combinations: 28

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	other	not provided	total
BRCA2	80	14	69	26	17	2	0	1	208
TP53	0	120	0	0	0	0	0	0	120
PIK3CA	0	45	0	0	0	0	0	0	45
EGFR	0	11	0	0	0	0	0	0	11
MTOR	0	7	0	0	0	0	0	0	7
PTEN	0	5	0	0	0	0	0	1	6
BRAF	0	5	0	0	0	0	0	0	5
FBXW7	0	5	0	0	0	0	0	0	5
IDH1	0	5	0	0	0	0	0	0	5
NRAS	0	5	0	0	0	0	0	0	5
CREBBP	0	4	0	0	0	0	0	0	4
HRAS, LRRC56	0	3	0	0	0	0	0	0	3
FGFR1	0	2	0	0	0	0	0	0	2
H3-3A	0	1	0	0	0	0	1	0	2
ALK	0	0	1	0	0	0	0	0	1
ATM, C11orf65	0	1	0	0	0	0	0	0	1
BCOR	0	0	0	0	0	0	1	0	1
CNTNAP3, NTRK2	0	0	1	0	0	0	0	0	1
DNMT3A	0	1	0	0	0	0	0	0	1
FGFR2, ZNF135	0	0	1	0	0	0	0	0	1
KIF5C, NTRK3	0	0	1	0	0	0	0	0	1
MED12	0	0	0	0	0	0	1	0	1
MGMT	0	0	0	0	0	0	0	1	1
MSH2	1	0	0	0	0	0	0	0	1
MYCN, MYCNOS	0	1	0	0	0	0	0	0	1
PIK3R1	0	1	0	0	0	0	0	0	1
POLE	0	1	0	0	0	0	0	0	1
SLX4	0	1	0	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 12

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	risk factor	other	not provided	total
Database of Curated Mutations (DoCM)	0	221	0	0	0	0	0	2	223
Fulgent Genetics, Fulgent Genetics	64	4	68	26	17	0	0	0	179
Juno Genomics, Hangzhou Juno Genomics, Inc	17	10	0	0	0	0	0	0	27
M.M. Shemyakin and Yu.A. Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Science	0	0	4	0	0	0	0	0	4
Donald Williams Parsons Laboratory, Baylor College of Medicine	0	0	0	0	0	0	3	0	3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	1	2	0	0	0	0	0	0	3
OMIM	0	0	0	0	0	2	0	0	2
GenomeConnect, ClinGen	0	0	0	0	0	0	0	1	1
Murat Gunel Laboratory, Yale University	0	1	0	0	0	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	0	0	0	0	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	1	0	0	0	0	0	0	0	1
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili	1	0	0	0	0	0	0	0	1

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