ClinVar Miner

Variants studied for Aortic valve disease 1

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
13 12 262 185 191 658

Gene and significance breakdown #

Total genes and gene combinations: 14
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NOTCH1 9 10 241 175 180 610
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: 29
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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 14 0 0 15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 6 5 11
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 5 0 0 6
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
MGZ Medical Genetics Center 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 1 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
New York Genome Center 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 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
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 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
PG23_Medical Genetics Lab, ASST Papa Giovanni XXIII 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
MVZ Medizinische Genetik Mainz 0 0 1 0 0 1
Genomics And Bioinformatics Analysis Resource, Columbia University 0 1 0 0 0 1

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