Submissions for variant NM_005359.6(SMAD4):c.909T>C (p.Pro303=)

dbSNP: rs141149381

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000459407	SCV000556159	likely benign	Juvenile polyposis syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311782	SCV000671990	likely benign	Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome	2016-01-28	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.
Color Diagnostics, LLC DBA Color Health	RCV000561608	SCV000691445	likely benign	Hereditary cancer-predisposing syndrome	2017-08-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001721510	SCV000722608	likely benign	not provided	2020-09-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003899949	SCV004715809	likely benign	SMAD4-related condition	2021-03-02	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).