Submissions for variant NM_000038.6(APC):c.4962T>C (p.Ala1654=)

dbSNP: rs551322279

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV001023331	SCV001185192	likely benign	Hereditary cancer-predisposing syndrome	2018-06-06	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.
Color Diagnostics, LLC DBA Color Health	RCV001023331	SCV001353582	likely benign	Hereditary cancer-predisposing syndrome	2019-07-18	criteria provided, single submitter	clinical testing
Invitae	RCV003743634	SCV001679607	likely benign	Familial adenomatous polyposis 1	2024-01-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000204525	SCV001886808	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000204525	SCV002047137	likely benign	not provided	2021-05-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003897454	SCV004712290	likely benign	APC-related condition	2020-09-29	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).