ClinVar Miner

Variants studied for cardiovascular organ benign neoplasm

Included ClinVar conditions (43):
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
153 67 639 263 62 2 3 1 1175

Gene and significance breakdown #

Total genes and gene combinations: 55
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
SDHB 66 17 213 44 9 0 0 1 343
SDHD 32 7 129 33 8 0 0 0 205
KIF1B 1 0 91 52 8 0 0 0 152
RET 10 1 68 31 2 0 0 0 111
TMEM127 1 19 41 36 3 0 0 0 97
SDHC 0 0 32 14 15 0 0 0 61
MAX 0 0 18 19 7 0 0 0 44
SDHA 0 0 15 27 0 0 0 0 42
SDHAF2 0 0 12 6 4 0 0 0 22
TP53 7 1 4 0 0 0 0 0 12
VHL 5 2 3 0 0 0 0 0 10
LOC107303340, VHL 3 4 2 0 0 0 0 0 9
PIK3CA 5 0 2 0 0 0 0 0 7
​intergenic 2 3 1 0 0 0 0 0 6
LOC106736614, RET 0 0 3 1 1 0 0 0 5
ELMO2 3 0 1 0 0 0 0 0 4
KDR 1 0 0 0 1 1 0 0 3
KRAS 3 0 0 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
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
CACNA1H 0 0 1 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
CSMD3 0 0 0 0 1 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
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
IL17RD 0 1 0 0 0 0 0 0 1
LEMD3 1 0 0 0 0 0 0 0 1
MAP4K4 0 1 0 0 0 0 0 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
PADI2, SDHB 1 0 0 0 0 0 0 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
PTEN 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

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor other not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 282 204 49 0 0 0 535
Invitae 95 19 325 60 11 0 0 0 510
Fulgent Genetics,Fulgent Genetics 16 3 35 0 0 0 0 0 54
OMIM 41 0 0 0 0 2 0 0 43
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 3 0 1 0 0 0 15
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
CSER_CC_NCGL; University of Washington Medical Center 0 0 4 3 0 0 0 0 7
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 2 3 1 0 0 0 0 0 6
GeneReviews 4 0 0 0 0 0 0 0 4
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 0 0 0 3 0 3
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 1 1 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 0 0 0 1
Genetic Services Laboratory, University of Chicago 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
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 0 1 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 0 0 1
Kahle Lab,Yale University 0 1 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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