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
25 17 177 139 5 3 354

Gene and significance breakdown #

Total genes and gene combinations: 10
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ACTA2 25 17 171 136 5 3 345
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: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 21 12 149 136 5 0 323
Illumina Laboratory Services, Illumina 0 0 16 1 0 0 17
Fulgent Genetics, Fulgent Genetics 2 0 7 1 0 0 10
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
CSER _CC_NCGL, University of Washington 0 0 0 3 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 2 0 0 0 3
Clinical Genetics Unit, University of Padua 3 0 0 0 0 0 3
Institute of Human Genetics, Cologne University 0 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 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
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 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
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 0 1 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

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