Submissions for variant NM_004612.4(TGFBR1):c.52GCG[7] (p.Ala25_Ala26del)

dbSNP: rs11466445

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000865938	SCV000319345	benign	Familial thoracic aortic aneurysm and aortic dissection	2015-03-19	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.
GeneDx	RCV001705391	SCV000730559	likely benign	not provided	2021-05-08	criteria provided, single submitter	clinical testing
Invitae	RCV000865938	SCV001006968	benign	Familial thoracic aortic aneurysm and aortic dissection	2024-01-25	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000865938	SCV001333309	benign	Familial thoracic aortic aneurysm and aortic dissection	2019-02-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955401	SCV004775792	likely benign	TGFBR1-related condition	2021-09-13	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).