Submissions for variant NM_000038.6(APC):c.6504A>C (p.Leu2168=)

gnomAD frequency: 0.00001  dbSNP: rs750058868

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV003537356	SCV001079055	likely benign	Familial adenomatous polyposis 1	2024-01-09	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001181770	SCV001346973	likely benign	Hereditary cancer-predisposing syndrome	2020-01-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001181770	SCV002659191	likely benign	Hereditary cancer-predisposing syndrome	2020-11-15	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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	RCV003478585	SCV004219650	likely benign	not provided	2023-03-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003983282	SCV004800252	likely benign	APC-related condition	2024-02-14	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).