ClinVar Miner

Variants studied for cardiovascular neoplasm

Included ClinVar conditions (86):
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
540 281 2055 765 150 3 4 6 3636

Gene and significance breakdown #

Total genes and gene combinations: 81
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
SDHA 37 19 452 184 19 0 0 0 686
SDHB 102 37 216 48 9 0 0 2 390
LOC107303340, VHL 101 36 172 56 13 0 0 0 362
RET 55 19 174 73 12 0 0 2 301
VHL 76 25 160 48 7 0 0 0 299
GATA2 15 5 169 73 15 0 0 0 269
SDHC 14 10 156 41 18 0 0 0 234
SDHD 50 12 133 33 8 0 0 1 228
TMEM127 11 21 135 58 10 0 0 0 222
KIF1B 1 0 91 52 8 0 0 0 152
SDHAF2 4 2 74 21 6 0 0 0 105
MAX 6 1 50 36 7 0 0 0 100
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
LOC100506321, MAX 3 0 3 2 0 0 0 0 8
PIK3CA 5 4 2 0 0 0 0 0 8
​intergenic 3 3 1 0 0 0 0 0 7
LOC106736614, RET 0 0 4 1 1 0 0 0 6
PTEN 1 1 4 0 0 0 0 0 6
KHDC3L 4 1 0 0 0 0 0 0 5
KRAS 3 2 0 0 0 0 0 0 5
NRAS 0 5 0 0 0 0 0 0 5
BRAF 1 3 0 0 0 0 0 0 4
BRK1, FANCD2, FANCD2OS, LOC107303338, LOC107303339, LOC107303340, VHL 2 0 2 0 0 0 0 0 4
ELMO2 3 0 1 0 0 0 0 0 4
LOC110121224, TMEM127 2 0 2 0 0 0 0 0 4
GNAS 0 3 0 0 0 0 0 0 3
INSL6, JAK2 2 0 0 0 0 0 0 1 3
KDR 1 0 0 0 1 1 0 0 3
SH2B3 2 0 1 0 0 0 0 0 3
KRIT1 1 1 0 0 0 0 0 0 2
MPZ, SDHC 0 0 0 0 2 0 0 0 2
PADI2, SDHB 2 0 0 0 0 0 0 0 2
ADAMTS4, APOA2, ARHGAP30, B4GALT3, CD244, DEDD, F11R, FCER1G, ITLN1, ITLN2, KLHDC9, LOC101928372, LOC112543491, LY9, MIR5187, MPZ, NDUFS2, NECTIN4, NIT1, NR1I3, PCP4L1, PFDN2, PPOX, SDHC, TOMM40L, TSTD1, UFC1, USF1, USP21 0 0 1 0 0 0 0 0 1
ADGRV1 0 0 1 0 0 0 0 0 1
AKT3 0 1 0 0 0 0 0 0 1
ANTXR1 0 0 0 0 0 1 0 0 1
ARG2, RDH11, RDH12, VTI1B, ZFYVE26 0 0 1 0 0 0 0 0 1
ARID1B 1 0 0 0 0 0 0 0 1
ATG2B, BDKRB1, BDKRB2, C14orf132, GSKIP, LOC107984703, LOC112272571, TCL1A, TUNAR 0 1 0 0 0 0 0 0 1
CACNA1H 0 0 1 0 0 0 0 0 1
CALR 1 0 0 0 0 0 0 0 1
CCM2 1 0 0 0 0 0 0 0 1
CDH2 0 1 0 0 0 0 0 0 1
CFAP126, SDHC 0 0 0 0 1 0 0 0 1
CHEK2 0 0 1 0 0 0 0 0 1
CSMD3 0 0 0 0 1 0 0 0 1
DHFR, MSH3 0 0 1 0 0 0 0 0 1
DIPK1A, RPL5 1 0 0 0 0 0 0 0 1
EGFR 0 1 0 0 0 0 0 0 1
ENG 1 0 0 0 0 0 0 0 1
ENG, LOC102723566 1 0 0 0 0 0 0 0 1
FAM20A, PRKAR1A 0 1 0 0 0 0 0 0 1
FLT4 1 0 0 0 0 0 0 0 1
FOXO3 0 0 0 0 0 0 1 0 1
GLI2 0 0 1 0 0 0 0 0 1
GLMN 1 0 0 0 0 0 0 0 1
GNA14 0 1 0 0 0 0 0 0 1
H3-3A 0 1 0 0 0 0 0 0 1
IL17RD 0 1 0 0 0 0 0 0 1
KMT2D 0 1 0 0 0 0 0 0 1
LEMD3 1 0 0 0 0 0 0 0 1
LOC110121502, MCS+9.7, RET 0 0 0 1 0 0 0 0 1
MAP4K4 0 1 0 0 0 0 0 0 1
MED12 0 0 0 0 0 0 1 0 1
MYH9 0 1 0 0 0 0 0 0 1
NF2 0 0 0 0 0 0 1 0 1
NSD1 0 0 0 0 0 0 1 0 1
PDCD10 0 1 0 0 0 0 0 0 1
PITPNM3 1 0 0 0 0 0 0 0 1
PKD1 0 1 0 0 0 0 0 0 1
PREX2 0 1 0 0 0 0 0 0 1
PRKAR1A 1 0 0 0 0 0 0 0 1
SARS1 1 0 0 0 0 0 0 0 1
SCUBE2 0 1 0 0 0 0 0 0 1
SYN3, TIMP3 0 1 0 0 0 0 0 0 1
TSC1 1 0 0 0 0 0 0 0 1
ZFYVE16 0 1 0 0 0 0 0 0 1
ZMYND11 0 0 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 50
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Invitae 255 66 1455 412 72 0 0 0 2259
Illumina Clinical Services Laboratory,Illumina 0 0 416 292 66 0 0 0 774
Counsyl 10 9 170 71 9 0 0 0 269
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 121 35 35 7 6 0 0 0 204
OMIM 117 0 0 0 0 3 0 0 120
Fulgent Genetics,Fulgent Genetics 19 4 64 0 0 0 0 0 87
Database of Curated Mutations (DoCM) 0 82 0 0 0 0 0 0 82
Section on Medical Neuroendocrinolgy,National Institutes of Health 59 13 8 0 0 0 0 0 80
Integrated Genetics/Laboratory Corporation of America 40 14 3 2 3 0 0 1 63
Mendelics 1 0 43 2 2 0 0 0 48
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 22 14 0 0 0 0 0 0 36
Research and Development, ARUP Laboratories 31 0 0 0 0 0 0 0 31
Center for Human Genetics, Inc 23 2 3 0 0 0 0 0 28
Familial Cancer Clinic,Veneto Institute of Oncology 0 19 0 0 0 0 0 0 19
Centre for Mendelian Genomics,University Medical Centre Ljubljana 7 4 4 0 1 0 0 0 16
GeneReviews 15 0 0 0 0 0 0 0 15
CSER_CC_NCGL; University of Washington Medical Center 0 0 8 6 0 0 0 0 14
Beijing Key Laboratory for Genetic Research of Skeletal Deformity,Peking Union Medical College Hospital 4 8 0 0 0 0 0 0 12
Endocrinology Clinic, Seth G.S. Medical College 0 10 0 0 0 0 0 0 10
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 5 0 2 0 0 0 8
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 6 1 0 0 0 0 0 0 7
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 5 0 1 0 0 0 0 0 6
Donald Williams Parsons Laboratory,Baylor College of Medicine 1 1 0 0 0 0 4 0 6
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 2 3 1 0 0 0 0 0 6
UCLA Clinical Genomics Center, UCLA 3 2 0 0 0 0 0 0 5
GenomeConnect, ClinGen 0 0 0 0 0 0 0 4 4
Genetic Services Laboratory, University of Chicago 1 2 0 0 0 0 0 0 3
Department of Pediatrics,Memorial Sloan Kettering Cancer Center 3 0 0 0 0 0 0 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 2 0 0 0 0 0 2
Genome Sciences Centre,British Columbia Cancer Agency 0 1 1 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 2 0 0 0 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 1 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 2 0 0 0 0 0 2
Biesecker Lab/Human Development Section,National Institutes of Health 1 0 0 0 0 0 0 0 1
Institute of Human Genetics,University of Goettingen 0 0 1 0 0 0 0 0 1
PreventionGenetics 0 0 1 0 0 0 0 0 1
Institute of Human Genetics,Cologne University 1 0 0 0 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 0 1 1
INSERM UMR 1170,INSERM 0 1 0 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 1 0 0 0 0 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 1 0 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
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 1 0 0 0 0 0 1
Genetics,Medical University of Vienna 0 1 0 0 0 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 1 0 0 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 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
Kahle Lab,Yale University 0 1 0 0 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 0 0 1

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