Submissions for variant NM_000038.6(APC):c.6837A>G (p.Lys2279=)

gnomAD frequency: 0.00002  dbSNP: rs1057521763

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000985314	SCV000524446	likely benign	not provided	2020-03-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000575673	SCV000667341	likely benign	Hereditary cancer-predisposing syndrome	2017-07-06	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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000985314	SCV001133357	likely benign	not provided	2018-10-09	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000575673	SCV001341623	likely benign	Hereditary cancer-predisposing syndrome	2018-12-10	criteria provided, single submitter	clinical testing
Invitae	RCV003766271	SCV001698919	likely benign	Familial adenomatous polyposis 1	2023-12-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003897883	SCV004710772	likely benign	APC-related condition	2023-08-16	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).