ClinVar Miner

Variants studied for familial bicuspid aortic valve

Included ClinVar conditions (18):
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
90 46 790 484 232 9 1619

Gene and significance breakdown #

Total genes and gene combinations: 30
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NOTCH1 9 9 266 186 180 7 639
SMAD6 8 11 408 182 14 1 613
TBX5 65 9 79 105 27 0 285
LOC126860794, NOTCH1 1 1 4 9 9 1 25
ROBO4 2 13 11 1 0 0 24
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
LOC110120917, LOC111413015, LOC111413043, LOC121847954, LOC125110346, LOC125110347, LOC126862158, LOC126862159, LOC126862160, LOC130057347, LOC130057348, LOC130057349, LOC130057350, LOC130057351, LOC130057352, LOC132090322, LOC132090323, SMAD3, SMAD3-DT, SMAD6, SMASR 0 0 1 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
PDIA2 0 0 1 0 0 0 1
SLC2A10 0 0 1 0 0 0 1
TBX3, TBX5 0 0 1 0 0 0 1
ZNF626 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 47
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 65 9 473 286 40 0 873
Genome-Nilou Lab 0 0 217 178 192 0 587
Fulgent Genetics, Fulgent Genetics 0 0 46 22 8 0 76
Baylor Genetics 1 4 19 0 0 0 24
Centre of Medical Genetics, University of Antwerp 3 1 15 0 0 0 19
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
OMIM 11 0 0 0 0 0 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 6 5 0 11
Revvity Omics, Revvity 0 1 7 0 0 0 8
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 2 5 0 0 0 8
New York Genome Center 1 1 6 0 0 0 8
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
Institute of Human Genetics, University of Leipzig Medical Center 0 0 5 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 3 1 0 0 4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 4 0 0 0 4
Blueprint Genetics 0 0 4 0 0 0 4
MVZ Medizinische Genetik Mainz 0 3 1 0 0 0 4
Genomic Medicine Lab, University of California San Francisco 1 2 0 0 0 0 3
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
Andelfinger Lab, Centre de Recherche, CHU Sainte Justine 2 0 0 0 0 0 2
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 2 0 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
3billion 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 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 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 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
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital 1 0 0 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
Center of Excellence for Medical Genomics, Chulalongkorn University 1 0 0 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
Genomics And Bioinformatics Analysis Resource, Columbia University 0 1 0 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.