Submissions for variant NM_005902.4(SMAD3):c.1128C>T (p.Phe376=)

gnomAD frequency: 0.00007  dbSNP: rs560348826

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000833283	SCV000975046	likely benign	not provided	2019-05-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001393915	SCV001595592	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-06-30	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001393915	SCV001735641	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2020-11-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001393915	SCV003855002	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-01-25	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001393915	SCV004239704	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2023-01-05	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003999476	SCV004815417	likely benign	Aneurysm-osteoarthritis syndrome	2023-12-18	criteria provided, single submitter	clinical testing