Submissions for variant NM_000038.6(APC):c.6579A>G (p.Lys2193=)

dbSNP: rs908184283

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000417637	SCV000515421	likely benign	not specified	2016-06-03	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV000491823	SCV000579883	likely benign	Hereditary cancer-predisposing syndrome	2016-01-07	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.
Invitae	RCV003650583	SCV001012321	likely benign	Familial adenomatous polyposis 1	2024-01-09	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000417637	SCV002047001	likely benign	not specified	2021-04-26	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000417637	SCV002550646	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000491823	SCV004359050	likely benign	Hereditary cancer-predisposing syndrome	2022-03-17	criteria provided, single submitter	clinical testing