ClinVar Miner

Variants studied for aortic disease

Included ClinVar conditions (31):
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 association not provided total
79 25 110 64 31 1 3 305

Gene and significance breakdown #

Total genes and gene combinations: 39
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
ELN 41 7 41 51 21 0 1 154
NOTCH1 5 1 22 6 5 0 1 40
TBX5 16 1 12 1 5 0 0 35
SMAD6 9 0 7 4 0 0 0 20
ROBO4 0 11 1 0 0 0 0 12
​intergenic 2 1 1 0 0 0 0 4
TBX20 0 0 4 0 0 0 0 4
DSP 1 0 1 0 0 0 0 2
FBN1 1 0 1 0 0 0 0 2
MT-ATP6 1 1 0 0 0 0 0 2
OBSL1 0 0 2 0 0 0 0 2
ABCC6, NOMO3 0 0 1 0 0 0 0 1
ARF1, BTNL10, C1orf35, GJC2, GUK1, HIST3H2A, HIST3H2BB, HIST3H3, IBA57, MRPL55, OBSCN, RHOU, RNF187, TRIM11, TRIM17, WNT3A 0 0 1 0 0 0 0 1
CDK8 1 0 0 0 0 0 0 1
CEP85L, PLN 0 0 1 0 0 0 0 1
COL3A1 0 0 1 0 0 0 0 1
COL5A1 0 0 1 0 0 0 0 1
DGCR6, PRODH, USP18 0 0 1 0 0 0 0 1
DPY19L1, NPSR1, TBX20 0 0 1 0 0 0 0 1
DSG1 0 1 0 0 0 0 0 1
FBN3 0 0 1 0 0 0 0 1
FOXP1 0 0 0 0 0 1 0 1
GATA5 0 0 1 0 0 0 0 1
HRAS, LRRC56 0 0 0 1 0 0 0 1
KLF12 0 0 1 0 0 0 0 1
LCTL, SMAD3, SMAD6, ZWILCH 1 0 0 0 0 0 0 1
LRRC38, PDPN 0 0 1 0 0 0 0 1
LSM1 0 0 1 0 0 0 0 1
MT-ATP8 1 0 0 0 0 0 0 1
MYH11 0 0 1 0 0 0 0 1
MYH11, NDE1 0 0 1 0 0 0 0 1
MYH7 0 1 0 0 0 0 0 1
MYLK 0 0 0 1 0 0 0 1
RYR1 0 0 1 0 0 0 0 1
SLC2A10 0 0 1 0 0 0 0 1
TAB2 0 1 0 0 0 0 0 1
TGFB2 0 0 1 0 0 0 0 1
TGFBR2 0 0 0 0 0 0 1 1
ZNF626 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 27 4 38 21 19 0 0 109
Illumina Clinical Services Laboratory,Illumina 0 0 22 38 8 0 0 68
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 20 4 0 0 0 0 0 24
Centre of Medical Genetics, University of Antwerp 8 0 11 0 0 0 0 19
Fulgent Genetics 0 0 18 0 0 0 0 18
OMIM 17 0 0 0 0 0 0 17
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 11 1 0 0 0 0 12
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 6 5 0 0 11
Blueprint Genetics, 0 0 5 2 0 0 0 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 2 3 0 0 0 0 7
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 2 1 1 0 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 0 0 0 0 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 3 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 0 3 3
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 3 0 0 0 0 3
Molecular Biology Laboratory,University of Basrah 2 1 0 0 0 0 0 3
CSER_CC_NCGL; University of Washington Medical Center 0 0 2 0 0 0 0 2
Andelfinger Lab,Centre de Recherche, CHU Sainte Justine 2 0 0 0 0 0 0 2
Baylor Miraca Genetics Laboratories, 1 0 0 0 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 0 0 0 0 0 1
Garg Lab, Nationwide Children's Hospital 0 0 0 0 0 1 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 1 0 0 0 0 0 0 1
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 1 0 0 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 1 0 0 0 0 1
Wendy Chung Laboratory,Columbia University Medical Center 0 0 1 0 0 0 0 1

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