ClinVar Miner

Variants studied for cardiovascular cancer

Included ClinVar conditions (30):
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
196 132 821 282 48 2 4 4 1438

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
SDHA 37 19 442 157 19 0 0 0 664
SDHB 76 21 207 40 7 0 0 1 345
RET 54 19 123 46 10 0 0 2 231
MPL 11 3 30 34 10 1 0 0 79
TP53 7 40 4 0 0 0 0 0 50
THPO 3 0 11 4 2 0 0 0 20
CTNNB1 0 11 0 0 0 0 0 0 11
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
INSL6, JAK2 2 0 0 0 0 0 0 1 3
SH2B3 2 0 1 0 0 0 0 0 3
KRAS 0 2 0 0 0 0 0 0 2
PADI2, SDHB 2 0 0 0 0 0 0 0 2
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, TCL1A, TUNAR 0 1 0 0 0 0 0 0 1
CALR 1 0 0 0 0 0 0 0 1
CHEK2 0 0 1 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
LOC106736614, RET 0 0 1 0 0 0 0 0 1
LOC110121502, MCS+9.7, RET 0 0 0 1 0 0 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
SDHAF2 1 0 0 0 0 0 0 0 1
ZMYND11 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Invitae 113 35 646 190 36 0 0 0 1020
Counsyl 9 9 134 58 8 0 0 0 218
Database of Curated Mutations (DoCM) 0 82 0 0 0 0 0 0 82
Illumina Clinical Services Laboratory,Illumina 0 0 30 35 3 0 0 0 68
Fulgent Genetics,Fulgent Genetics 15 2 41 0 0 0 0 0 58
OMIM 47 0 0 0 0 2 0 0 49
Mendelics 1 0 43 2 2 0 0 0 48
Research and Development, ARUP Laboratories 31 0 0 0 0 0 0 0 31
Center for Human Genetics, Inc 11 1 3 0 0 0 0 0 15
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 0 5 0 2 0 0 0 7
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 5 1 0 0 0 0 0 0 6
Integrated Genetics/Laboratory Corporation of America 2 0 2 0 1 0 0 0 5
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 1 0 0 0 0 4 0 5
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 4 0 0 0 0 0 0 0 4
GeneReviews 4 0 0 0 0 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 3 0 0 0 0 0 0 0 3
Department of Pediatrics,Memorial Sloan Kettering Cancer Center 3 0 0 0 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 0 3 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 1 0 0 0 1 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 1 0 0 0 0 0 0 0 1
CSER_CC_NCGL; University of Washington Medical Center 0 0 1 0 0 0 0 0 1
INSERM UMR 1170,INSERM 0 1 0 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 0 0 0 0 0 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 1 0 0 0 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 0 0 1

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