Variants studied for Congenital aneurysm of ascending aorta

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	risk factor	not provided	total
2	1	5	2	0	2	1	13

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	risk factor	not provided	total
MYH11	1	0	1	0	0	1	3
MYLK	0	1	1	1	0	0	3
MYH11, NDE1	0	0	2	0	0	0	2
SMAD3	1	0	0	0	1	0	2
TGFBR2	0	0	1	1	0	0	2
COL3A1	0	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 4

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	risk factor	not provided	total
CSER _CC_NCGL, University of Washington	0	0	5	2	0	0	7
Heart Medical Centre, First Affiliated Hospital of Gannan Medical University	2	1	0	0	0	0	3
Center of Vascular Surgery, The Second Affiliated Hospital of Nanchang University	0	0	0	0	2	0	2
GenomeConnect, ClinGen	0	0	0	0	0	1	1

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