Submissions for variant NM_003242.6(TGFBR2):c.1680C>T (p.Asp560=)

gnomAD frequency: 0.00003  dbSNP: rs376815143

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001186474	SCV001352908	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-01-06	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001812239	SCV001472076	likely benign	not provided	2019-08-01	criteria provided, single submitter	clinical testing
Invitae	RCV001186474	SCV001635012	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-06-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001186474	SCV002714504	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2021-12-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen	RCV001812239	SCV004699857	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	TGFBR2: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003953572	SCV004770449	likely benign	TGFBR2-related condition	2019-07-10	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).