Variants studied for Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection

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	total
1724	400	1213	1542	182	5061

Gene and significance breakdown #

Total genes and gene combinations: 11

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
FBN1	1653	383	1167	1480	172	4855
FBN1, LOC113939944	29	12	23	25	3	92
FBN1, LOC126862124	29	4	17	29	3	82
FBN1, LOC130057019	6	0	6	8	4	24
CTXN2, DUT, FBN1, MYEF2, SLC12A1, SLC24A5	2	0	0	0	0	2
CEP152, FBN1	1	0	0	0	0	1
FBN1, LOC113939944, LOC125078076, LOC126862124, LOC126862125	1	0	0	0	0	1
FBN1, LOC113939944, LOC125078076, LOC126862124, LOC126862125, LOC130057018, LOC130057019	1	0	0	0	0	1
FBN1, LOC113939944, LOC126862125, LOC130057018	0	1	0	0	0	1
FBN1, LOC113939944, LOC126862125, LOC130057018, LOC130057019	1	0	0	0	0	1
FBN1, LOC125078076	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 1

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	1724	400	1213	1542	182	5061

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