ClinVar Miner

Variants studied for aortic valve disease 1

Included ClinVar conditions (11):
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 not provided total
14 18 64 6 5 2 108

Gene and significance breakdown #

Total genes and gene combinations: 24
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NOTCH1 7 3 41 6 5 2 63
ROBO4 0 11 1 0 0 0 12
SMAD6 2 1 5 0 0 0 8
TBX20 0 0 4 0 0 0 4
MT-ATP6 1 1 0 0 0 0 2
​intergenic 1 0 0 0 0 0 1
ABCC6, NOMO3 0 0 1 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 1
COL5A1 0 0 1 0 0 0 1
DGCR6, PRODH, USP18 0 0 1 0 0 0 1
DPY19L1, NPSR1, TBX20 0 0 1 0 0 0 1
DSG1 0 1 0 0 0 0 1
DSP 1 0 0 0 0 0 1
FBN3 0 0 1 0 0 0 1
GATA5 0 0 1 0 0 0 1
KLF12 0 0 1 0 0 0 1
LCTL, SMAD3, SMAD6, ZWILCH 1 0 0 0 0 0 1
LSM1 0 0 1 0 0 0 1
MT-ATP8 1 0 0 0 0 0 1
MYH11 0 0 1 0 0 0 1
PDIA2 0 0 1 0 0 0 1
SLC2A10 0 0 1 0 0 0 1
TAB2 0 1 0 0 0 0 1
ZNF626 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Centre of Medical Genetics, University of Antwerp 3 1 15 0 0 0 19
Fulgent Genetics,Fulgent Genetics 0 0 15 0 0 0 15
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 11 1 0 0 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 6 5 0 11
Baylor Genetics 1 0 9 0 0 0 10
Centre for Mendelian Genomics,University Medical Centre Ljubljana 1 2 5 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 7 0 0 0 7
OMIM 4 0 0 0 0 0 4
Blueprint Genetics 0 0 4 0 0 0 4
Molecular Biology Laboratory, University of Basrah 2 1 0 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
Andelfinger Lab,Centre de Recherche, CHU Sainte Justine 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Johns Hopkins Genomics, Johns Hopkins University 0 1 1 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Wendy Chung Laboratory,Columbia University Medical Center 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 0 0 0 1

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