ClinVar Miner

Variants studied for Aortic aneurysm, familial thoracic 7

Coded as:
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
4 7 173 85 45 1 310

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MYLK 4 7 173 85 45 1 310

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 0 4 163 84 39 0 290
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 8 0 0 0 8
Fulgent Genetics 0 0 7 0 0 0 7
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 0 6 0 6
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 3 0 0 0 3
OMIM 2 0 0 0 0 0 2
Cardiogenetics,Center of Medical Genetics, Antwerp, Belgium 2 0 0 0 0 0 2
Institute of Human Genetics,Cologne University 0 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
CSER_CC_NCGL; University of Washington Medical Center 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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