ClinVar Miner

Variants studied for aortic aneurysm, familial thoracic 6

Included ClinVar conditions (4):
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
26 20 208 161 6 3 409

Gene and significance breakdown #

Total genes and gene combinations: 10
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ACTA2 26 20 202 158 6 3 400
ACTA2, CH25H, FAS, LIPA 0 0 1 0 0 0 1
ACTA2, FAS 0 0 1 0 0 0 1
FBN1 0 0 1 0 0 0 1
MYH11 0 0 0 1 0 0 1
MYH11, NDE1 0 0 0 1 0 0 1
MYLK 0 0 0 1 0 0 1
SLC2A10 0 0 1 0 0 0 1
SMAD3 0 0 1 0 0 0 1
TGFBR1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 22 13 180 158 6 0 379
Illumina Laboratory Services, Illumina 0 0 16 1 0 0 17
Fulgent Genetics, Fulgent Genetics 2 1 8 1 0 0 12
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 1 3 0 0 0 6
OMIM 5 0 0 0 0 0 5
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 1 4 0 0 0 5
Institute of Human Genetics, Cologne University 0 2 1 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 2 0 0 0 3
CSER _CC_NCGL, University of Washington 0 0 0 3 0 0 3
Juno Genomics, Hangzhou Juno Genomics, Inc 2 1 0 0 0 0 3
Clinical Genetics Unit, University of Padua 3 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Baylor Genetics 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Mendelics 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 0 0 0 1
Centre of Medical Genetics, University of Antwerp 0 0 1 0 0 0 1
Laboratory Genomica, Gynecology and Assisted Reproduction Hospital Malinov DM 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 1 0 0 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 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. 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.