Submissions for variant NM_000038.6(APC):c.7026A>G (p.Leu2342=)

dbSNP: rs766086022

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV004567482	SCV000261672	likely benign	Familial adenomatous polyposis 1	2023-09-18	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000584582	SCV000687109	likely benign	Hereditary cancer-predisposing syndrome	2017-07-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679082	SCV000805460	likely benign	not provided	2017-03-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000584582	SCV001188225	likely benign	Hereditary cancer-predisposing syndrome	2018-01-02	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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000679082	SCV004220515	likely benign	not provided	2023-03-23	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004567482	SCV005082026	benign	Familial adenomatous polyposis 1	2024-04-08	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.