Submissions for variant NM_003242.6(TGFBR2):c.708C>T (p.Asn236=)

gnomAD frequency: 0.00003  dbSNP: rs141554621

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770347	SCV000901783	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2016-08-31	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000770347	SCV000903982	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-09-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000770347	SCV001657436	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-12-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000770347	SCV002662570	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-03-04	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
All of Us Research Program, National Institutes of Health	RCV003999937	SCV004839192	likely benign	Loeys-Dietz syndrome 2	2023-10-30	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003947971	SCV004763718	likely benign	TGFBR2-related disorder	2021-12-20	no assertion criteria provided	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).