Submissions for variant NM_000038.6(APC):c.2433A>G (p.Ser811=)

gnomAD frequency: 0.00001  dbSNP: rs768177978

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000214365	SCV000273389	likely benign	Hereditary cancer-predisposing syndrome	2015-01-13	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV004020646	SCV000647237	likely benign	Familial adenomatous polyposis 1	2024-01-24	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000214365	SCV000686892	likely benign	Hereditary cancer-predisposing syndrome	2017-09-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000600698	SCV000716569	likely benign	not provided	2020-02-19	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001800542	SCV002047101	likely benign	not specified	2021-05-14	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004020646	SCV004931806	benign	Familial adenomatous polyposis 1	2024-03-12	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.