ClinVar Miner

Variants studied for Aortic aneurysm, familial thoracic 7

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
48 24 1163 876 90 4 2115

Gene and significance breakdown #

Total genes and gene combinations: 7
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYLK 46 22 1117 848 88 4 2036
LOC126806791, MYLK 1 2 27 24 1 0 54
LOC126806792, MYLK 0 0 8 4 0 0 12
LOC129937401, MYLK 0 0 8 0 1 0 9
ADCY5, HACD2, MYLK 1 0 1 0 0 0 2
ADCY5, CCDC14, HACD2, HEG1, ITGB5, KALRN, MUC13, MYLK, OSBPL11, ROPN1, SLC12A8, SNX4, UMPS, ZNF148 0 0 1 0 0 0 1
CCDC14, MYLK 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 45 16 1059 843 81 0 2044
Illumina Laboratory Services, Illumina 0 0 117 32 29 0 178
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 10 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 3 2 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 6 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 5 1 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 5 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 2 1 0 0 4
Baylor Genetics 0 0 3 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 1 2 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
OMIM 3 0 0 0 0 0 3
Cardiogenetics, Center of Medical Genetics, Antwerp, Belgium 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 2 0 0 0 2
CSER _CC_NCGL, University of Washington 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Department of Cardiovascular Medicine, The University of Tokyo, Graduate School of Medicine 0 1 0 0 0 0 1
Department of Medical Genetics, Tarbiat Modares University 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 0 1 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
New York Genome Center 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.