Submissions for variant NM_005359.6(SMAD4):c.1311C>G (p.Val437=)

dbSNP: rs751539807

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000458676	SCV000556150	likely benign	Juvenile polyposis syndrome	2023-08-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000614902	SCV000720124	likely benign	not specified	2017-06-01	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health	RCV000775647	SCV000910027	likely benign	Hereditary cancer-predisposing syndrome	2017-12-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002383862	SCV002693619	likely benign	Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome	2021-02-18	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.
CeGaT Center for Human Genetics Tuebingen	RCV003418210	SCV004143107	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	SMAD4: BP4