Submissions for variant NM_000038.6(APC):c.4200G>C (p.Ser1400=)

dbSNP: rs367782881

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163555	SCV000214113	likely benign	Hereditary cancer-predisposing syndrome	2015-08-25	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.
Invitae	RCV003534428	SCV000282751	likely benign	Familial adenomatous polyposis 1	2023-11-27	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163555	SCV000681654	likely benign	Hereditary cancer-predisposing syndrome	2017-03-17	criteria provided, single submitter	clinical testing
GeneDx	RCV001555066	SCV001776420	likely benign	not provided	2019-12-03	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001555066	SCV004219359	likely benign	not provided	2023-08-04	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004019959	SCV004932122	benign	Familial adenomatous polyposis 1	2024-03-26	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.