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)

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
1877	425	1352	1702	190	5546

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	1802	410	1305	1632	180	5329
FBN1, LOC113939944	31	11	23	27	3	95
FBN1, LOC126862124	31	3	18	32	3	87
FBN1, LOC130057019	6	0	6	11	4	27
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	1877	425	1352	1702	190	5546

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