Submissions for variant NM_003242.6(TGFBR2):c.6T>C (p.Gly2=)

gnomAD frequency: 0.00001  dbSNP: rs758864131

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756780	SCV000884690	likely benign	not provided	2017-06-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000756780	SCV001246042	likely benign	not provided	2019-11-01	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001180342	SCV001345251	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2020-02-18	criteria provided, single submitter	clinical testing
Invitae	RCV001180342	SCV001619151	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-12-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000756780	SCV001823795	likely benign	not provided	2020-02-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001180342	SCV002665713	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-07-27	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.
PreventionGenetics, part of Exact Sciences	RCV003892684	SCV004709404	likely benign	TGFBR2-related condition	2021-12-13	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).