"Illumina Laboratory Services, Illumina"[submitter] AND "LOC130057352" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 316858	NM_005902.4(SMAD3):c.-115C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 316859	NM_005902.4(SMAD3):c.-100C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 884686	NM_005902.4(SMAD3):c.-38C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Aneurysm-osteoarthritis syndrome	GUncertain significance
Select item 139214	NM_005902.4(SMAD3):c.-28C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 139215	NM_005902.4(SMAD3):c.-23C>T	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	Loeys-Dietz syndrome +2 more	GBenign
Select item 139216	NM_005902.4(SMAD3):c.-15G>A	LOC130057352, SMAD3	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 701973	NM_005902.4(SMAD3):c.12C>T (p.Ile4=)	LOC130057352, SMAD3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity

ClinVar