Submissions for variant NM_005359.6(SMAD4):c.756A>G (p.Gly252=)

dbSNP: rs1244121412

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000581784	SCV000691432	likely benign	Hereditary cancer-predisposing syndrome	2017-09-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000865944	SCV001006974	likely benign	Juvenile polyposis syndrome	2024-12-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002431734	SCV001188981	likely benign	Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome	2022-12-20	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.
GeneDx	RCV001537083	SCV001753912	uncertain significance	not provided	2020-03-23	criteria provided, single submitter	clinical testing	Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002268214	SCV002551312	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004002381	SCV004820045	likely benign	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	2023-04-28	criteria provided, single submitter	clinical testing