Submissions for variant NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=)

gnomAD frequency: 0.00022  dbSNP: rs192662552

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038234	SCV000061902	likely benign	not specified	2009-06-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000246429	SCV000318314	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-09-14	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina	RCV000337463	SCV000475636	likely benign	Loeys-Dietz syndrome 1	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000246429	SCV000475637	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000283461	SCV000475638	likely benign	Loeys-Dietz syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000246429	SCV000658840	benign	Familial thoracic aortic aneurysm and aortic dissection	2024-01-17	criteria provided, single submitter	clinical testing
GeneDx	RCV001310668	SCV000718882	likely benign	not provided	2020-09-11	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000246429	SCV000903196	benign	Familial thoracic aortic aneurysm and aortic dissection	2018-04-13	criteria provided, single submitter	clinical testing