ClinVar Miner

Variants studied for aortic valve disease 1

Included ClinVar conditions (14):
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
18 28 304 196 191 8 726

Gene and significance breakdown #

Total genes and gene combinations: 26
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NOTCH1 10 12 275 186 180 7 651
LOC126860794, NOTCH1 1 1 4 9 9 1 25
ROBO4 0 11 1 0 0 0 12
SMAD6 2 1 5 0 0 0 8
LOC130003020, NOTCH1 0 0 3 0 1 0 4
TBX20 0 0 4 0 0 0 4
MIR4673, NOTCH1 0 0 0 1 1 0 2
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, H2AC25, H2BC26, 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
LOC126859827, TAB2 0 1 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
SLC2A10 0 0 1 0 0 0 1
ZNF626 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 44
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 0 0 217 178 191 0 586
Fulgent Genetics, Fulgent Genetics 0 0 52 18 8 0 78
Centre of Medical Genetics, University of Antwerp 3 1 15 0 0 0 19
Baylor Genetics 1 0 14 0 0 0 15
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 12 1 0 0 13
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 11 1 0 0 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 6 5 0 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 5 0 0 0 8
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 5 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 6 6
OMIM 4 0 0 0 0 0 4
Blueprint Genetics 0 0 4 0 0 0 4
New York Genome Center 1 0 3 0 0 0 4
Molecular Biology Laboratory, University of Basrah 2 1 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 2 1 0 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 1 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
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 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
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 0 1
Wendy Chung Laboratory, Columbia University Medical Center 0 0 1 0 0 0 1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital 0 0 1 0 0 0 1
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 1 0 0 0 0 1

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