Submissions for variant NM_003242.6(TGFBR2):c.106A>G (p.Met36Val)

gnomAD frequency: 0.00092  dbSNP: rs17025864

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000242516	SCV000319782	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-06-05	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.
Invitae	RCV000242516	SCV000658806	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2024-01-24	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000242516	SCV000901780	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-09-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000828695	SCV000970393	likely benign	not provided	2021-03-02	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25944730)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001059	SCV001158180	likely benign	not specified	2019-02-28	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000242516	SCV001347959	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2018-12-06	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001001059	SCV004038957	likely benign	not specified	2023-08-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003930027	SCV004740094	likely benign	TGFBR2-related condition	2021-12-29	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).