ClinVar Miner

Variants studied for cardiovascular cancer

Included ClinVar conditions (18):
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
56 80 76 97 19 2 4 1 318

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
MPL 35 9 43 91 14 1 0 0 178
TP53 9 40 4 0 0 0 0 0 52
THPO 6 1 25 6 5 0 0 0 42
CTNNB1 0 11 0 0 0 0 0 0 11
INSL6, JAK2 2 0 2 0 0 0 0 1 5
NRAS 0 5 0 0 0 0 0 0 5
PIK3CA 0 4 0 0 0 0 0 0 4
BRAF 0 3 0 0 0 0 0 0 3
GNAS 0 3 0 0 0 0 0 0 3
CALR 2 0 0 0 0 0 0 0 2
KRAS 0 2 0 0 0 0 0 0 2
SH2B3 1 0 1 0 0 0 0 0 2
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, TCL1A, TUNAR 0 1 0 0 0 0 0 0 1
CHEK2 0 0 1 0 0 0 0 0 1
CUX2, SH2B3 1 0 0 0 0 0 0 0 1
FOXO3 0 0 0 0 0 0 1 0 1
H3-3A 0 1 0 0 0 0 0 0 1
IL6 0 0 0 0 0 1 0 0 1
MED12 0 0 0 0 0 0 1 0 1
NF2 0 0 0 0 0 0 1 0 1
NSD1 0 0 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 18
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Invitae 33 8 22 61 14 0 0 0 138
Illumina Clinical Services Laboratory,Illumina 0 0 41 37 6 0 0 0 84
Database of Curated Mutations (DoCM) 0 68 0 0 0 0 0 0 68
Fulgent Genetics,Fulgent Genetics 7 1 5 0 0 0 0 0 13
OMIM 10 0 0 0 0 2 0 0 12
Baylor Genetics 3 0 3 0 0 0 0 0 6
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 1 0 0 0 0 4 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 0 0 2
INSERM UMR 1170,INSERM 0 1 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 1 0 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 1 0 0 0 0 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 1 0 0 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 0 0 1
Michigan Center for Translational Pathology,University of Michigan 1 0 0 0 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 0 0 1 0 0 0 0 0 1
Nilou-Genome Lab 1 0 0 0 0 0 0 0 1

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