Submissions for variant NM_000038.6(APC):c.6684G>A (p.Arg2228=)

gnomAD frequency: 0.00001  dbSNP: rs752314977

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000166095	SCV000216861	likely benign	Hereditary cancer-predisposing syndrome	2014-10-10	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.
Color Diagnostics, LLC DBA Color Health	RCV000166095	SCV001347048	likely benign	Hereditary cancer-predisposing syndrome	2019-05-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV004562364	SCV001673771	likely benign	Familial adenomatous polyposis 1	2025-01-19	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000459466	SCV002046096	likely benign	not provided	2021-03-30	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000166095	SCV002534418	likely benign	Hereditary cancer-predisposing syndrome	2021-10-11	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV003995477	SCV004843439	likely benign	Classic or attenuated familial adenomatous polyposis	2023-11-30	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004562364	SCV005083717	benign	Familial adenomatous polyposis 1	2024-04-05	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.