ClinVar Miner

Variants studied for high grade malignant neoplasm

Included ClinVar conditions (19):
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 risk factor other not provided total
130 25 176 28 17 2 4 1 381

Gene and significance breakdown #

Total genes and gene combinations: 35
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
BRCA2 124 16 147 28 17 2 0 1 334
TP53 3 2 2 0 0 0 0 0 6
ALK 0 0 2 0 0 0 0 0 2
ATM, C11orf65 1 1 0 0 0 0 0 0 2
DICER1 0 0 2 0 0 0 0 0 2
FANCA 0 0 2 0 0 0 0 0 2
MSH2 1 0 1 0 0 0 0 0 2
NF1 0 0 2 0 0 0 0 0 2
PALB2 0 0 2 0 0 0 0 0 2
POLE 0 0 2 0 0 0 0 0 2
APC 0 0 1 0 0 0 0 0 1
ATRX 1 0 0 0 0 0 0 0 1
BCOR 0 0 0 0 0 0 1 0 1
BRD7, LOC126862343 0 1 0 0 0 0 0 0 1
BRIP1 0 1 0 0 0 0 0 0 1
CDK4, TSPAN31 0 0 1 0 0 0 0 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
FGFR3 0 0 1 0 0 0 0 0 1
H3-3A 0 0 0 0 0 0 1 0 1
IDH1 0 0 1 0 0 0 0 0 1
KDM5B 0 0 1 0 0 0 0 0 1
KIF5C, NTRK3 0 0 1 0 0 0 0 0 1
LZTR1 0 1 0 0 0 0 0 0 1
MED12 0 0 0 0 0 0 1 0 1
NBN 0 0 1 0 0 0 0 0 1
PMS2 0 0 1 0 0 0 0 0 1
POT1 0 1 0 0 0 0 0 0 1
RAD51B 0 0 1 0 0 0 0 0 1
RET 0 0 1 0 0 0 0 0 1
RNF213 0 0 0 0 0 0 1 0 1
RUNX1 0 0 1 0 0 0 0 0 1
SDHA 0 0 1 0 0 0 0 0 1
SLX4 0 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Fulgent Genetics, Fulgent Genetics 106 6 145 28 17 0 0 0 302
Juno Genomics, Hangzhou Juno Genomics, Inc 20 10 0 0 0 0 0 0 30
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 4 23 0 0 0 0 0 27
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 4 3 3 0 0 0 0 0 10
Donald Williams Parsons Laboratory, Baylor College of Medicine 0 0 0 0 0 0 4 0 4
M.M. Shemyakin and Yu.A. Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Science 0 0 4 0 0 0 0 0 4
OMIM 0 0 0 0 0 2 0 0 2
Tampere Brain Tumor Research Consortium, University of Tampere 2 0 0 0 0 0 0 0 2
Center for Personalized Medicine, Roswell Park Cancer Institute 0 1 0 0 0 0 0 0 1
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
University Health Network, Princess Margaret Cancer Centre 1 0 0 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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