ClinVar Miner

Variants studied for congenital anomaly of the great arteries

Included ClinVar conditions (40):
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
110 42 177 94 54 1 3 471

Gene and significance breakdown #

Total genes and gene combinations: 49
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
ELN 43 8 46 51 21 0 1 161
TFAP2B 11 1 39 31 23 0 0 104
SMAD6 10 0 30 4 0 0 0 44
NOTCH1 7 1 22 6 5 0 2 43
TBX5 21 1 13 1 5 0 0 41
ROBO4 0 11 1 0 0 0 0 12
​intergenic 6 2 0 0 0 0 0 8
NF1 0 5 0 0 0 0 0 5
JAG1 0 4 0 0 0 0 0 4
TBX20 0 0 4 0 0 0 0 4
PRDM6 3 0 0 0 0 0 0 3
HYDIN 0 1 1 0 0 0 0 2
MT-ATP6 1 1 0 0 0 0 0 2
MYH11 0 0 2 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, H2AW, H2BU1, H3-4, IBA57, MRPL55, OBSCN, RHOU, RNF187, TRIM11, TRIM17, WNT3A 0 0 1 0 0 0 0 1
BRAF 0 1 0 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
DSP 1 0 0 0 0 0 0 1
ELN, LOC113748410 1 0 0 0 0 0 0 1
FBN3 0 0 1 0 0 0 0 1
FOXP1 0 0 0 0 0 1 0 1
GATA4 0 0 1 0 0 0 0 1
GATA5 0 0 1 0 0 0 0 1
GATA6 0 1 0 0 0 0 0 1
HRAS, LRRC56 0 0 0 1 0 0 0 1
INPP5E 1 0 0 0 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
PTPN11 1 0 0 0 0 0 0 1
RNF213 0 1 0 0 0 0 0 1
RYR1 0 0 1 0 0 0 0 1
SLC2A10 0 0 1 0 0 0 0 1
SOS1 1 0 0 0 0 0 0 1
SOX3 0 0 1 0 0 0 0 1
TAB2 0 1 0 0 0 0 0 1
TMCO1 1 0 0 0 0 0 0 1
TNFRSF13B 0 0 1 0 0 0 0 1
TPM1 0 1 0 0 0 0 0 1
VANGL1 0 0 1 0 0 0 0 1
ZNF526 0 1 0 0 0 0 0 1
ZNF626 0 0 1 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 association not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 61 69 29 0 0 158
Invitae 35 5 67 21 19 0 0 147
OMIM 34 0 0 0 0 0 0 34
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,Fulgent Genetics 0 0 18 0 0 0 0 18
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 11 1 0 0 0 0 12
Yale Center for Mendelian Genomics,Yale University 0 11 0 0 0 0 0 11
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 6 5 0 0 11
GeneReviews 8 0 0 0 2 0 0 10
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 2 1 7 0 0 0 0 10
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 6 2 0 0 0 0 0 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 3 3 0 0 0 0 8
Blueprint Genetics, 0 0 4 1 0 0 0 5
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
Molecular Biology Laboratory,University of Basrah 2 1 0 0 0 0 0 3
Andelfinger Lab,Centre de Recherche, CHU Sainte Justine 2 0 0 0 0 0 0 2
Embryology Laboratory,Victor Chang Cardiac Research Institute 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
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 0 1
Gene Discovery Core-Manton Center,Boston Children's Hospital 0 1 0 0 0 0 0 1
Laboratory of Research in Genomics, Genetics and Bioinformatics,Hospital Infantil de Mexico Federico Gomez 0 1 0 0 0 0 0 1
Wendy Chung Laboratory,Columbia University Medical Center 0 0 1 0 0 0 0 1
Medical Genetics,American University of Beirut 1 0 0 0 0 0 0 1

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