Submissions for variant NM_000038.6(APC):c.7536T>C (p.Ser2512=)

dbSNP: rs587780604

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003764853	SCV000166058	likely benign	Familial adenomatous polyposis 1	2024-10-12	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000507547	SCV000600152	likely benign	not specified	2017-06-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000562932	SCV000667376	likely benign	Hereditary cancer-predisposing syndrome	2016-11-18	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	RCV000562932	SCV000681874	likely benign	Hereditary cancer-predisposing syndrome	2016-09-23	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003997386	SCV004835687	likely benign	Classic or attenuated familial adenomatous polyposis	2023-12-01	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV003764853	SCV005084034	benign	Familial adenomatous polyposis 1	2024-04-10	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.
True Health Diagnostics	RCV000562932	SCV000693492	likely benign	Hereditary cancer-predisposing syndrome	2017-08-14	no assertion criteria provided	clinical testing