Variants studied for aortic aneurysm

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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	association	not provided	total
2	7	5	1	7	3	1	26

Gene and significance breakdown #

Total genes and gene combinations: 18

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	not provided	total
TGFBR2	0	0	0	0	3	0	1	4
ARIH1	0	0	0	0	0	2	0	2
FBN1	1	0	1	0	0	0	0	2
ROBO4	0	2	0	0	0	0	0	2
SMAD3	0	0	0	0	2	0	0	2
SMAD6	0	2	0	0	0	0	0	2
ACTA2	0	0	0	0	1	0	0	1
ARIH1, LOC130057478	0	0	0	0	0	1	0	1
BLK, CTSB, DEFB134, DEFB135, DEFB136, FDFT1, GATA4, NEIL2	0	1	0	0	0	0	0	1
COL3A1	0	0	1	0	0	0	0	1
GATA4	0	1	0	0	0	0	0	1
LOC130057352, SMAD3	1	0	0	0	0	0	0	1
MYH11, NDE1	0	0	1	0	0	0	0	1
MYLK	0	0	0	1	0	0	0	1
NOTCH1	0	1	0	0	0	0	0	1
TGFB2	0	0	1	0	0	0	0	1
TGFBR1	0	0	0	0	1	0	0	1
THSD1	0	0	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association	not provided	total
University of Washington Center for Mendelian Genomics, University of Washington	0	7	0	0	0	3	0	10
Cohesion Phenomics	0	0	0	0	7	0	0	7
CSER _CC_NCGL, University of Washington	0	0	2	0	0	0	0	2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	0	0	1	0	0	0	0	1
Blueprint Genetics	0	0	0	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	0	0	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	1	0	0	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	0	1	1
Institute of Human Genetics, University Hospital Muenster	0	0	1	0	0	0	0	1

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