ClinVar Miner

Variants studied for Aortic valve disease 1

Coded as:
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 total
12 10 256 185 191 649

Gene and significance breakdown #

Total genes and gene combinations: 14
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NOTCH1 8 8 235 175 180 601
LOC126860794, NOTCH1 1 1 3 9 9 23
SMAD6 2 1 4 0 0 7
LOC130003020, NOTCH1 0 0 3 0 1 4
TBX20 0 0 4 0 0 4
MIR4673, NOTCH1 0 0 0 1 1 2
ABCC6, NOMO3 0 0 1 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 1
DGCR6, PRODH, USP18 0 0 1 0 0 1
DPY19L1, NPSR1, TBX20 0 0 1 0 0 1
FBN3 0 0 1 0 0 1
KLF12 0 0 1 0 0 1
LCTL, SMAD3, SMAD6, ZWILCH 1 0 0 0 0 1
ZNF626 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 26
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genome-Nilou Lab 0 0 217 178 191 586
Centre of Medical Genetics, University of Antwerp 3 1 15 0 0 19
Baylor Genetics 1 0 13 0 0 14
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 6 5 11
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 5 0 0 5
OMIM 4 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 2 1 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 3 0 0 3
MGZ Medical Genetics Center 0 0 2 0 0 2
Andelfinger Lab, Centre de Recherche, CHU Sainte Justine 2 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 1 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 1 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 1
Medizinische Genetik Mainz, Limbach Genetics GmbH 0 0 1 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.