Submissions for variant NM_005902.4(SMAD3):c.1092C>T (p.Tyr364=)

gnomAD frequency: 0.00010  dbSNP: rs753875974

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725295	SCV000335738	uncertain significance	not provided	2015-10-08	criteria provided, single submitter	clinical testing
Invitae	RCV001080387	SCV000658860	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-10-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000725295	SCV000718500	likely benign	not provided	2020-10-15	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001080387	SCV001356140	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-06-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001080387	SCV004051411	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-06-29	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	RCV003909948	SCV004732798	likely benign	SMAD3-related condition	2020-01-08	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).