Submissions for variant NM_000038.6(APC):c.7407T>C (p.Ser2469=)

gnomAD frequency: 0.00001  dbSNP: rs1282202968

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000612046	SCV000728976	likely benign	not specified	2017-06-27	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV004563346	SCV000768387	likely benign	Familial adenomatous polyposis 1	2024-05-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002385945	SCV002671243	likely benign	Hereditary cancer-predisposing syndrome	2019-09-26	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.
Color Diagnostics, LLC DBA Color Health	RCV002385945	SCV004356801	likely benign	Hereditary cancer-predisposing syndrome	2022-11-06	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004563346	SCV005082745	benign	Familial adenomatous polyposis 1	2024-04-09	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.
PreventionGenetics, part of Exact Sciences	RCV003980180	SCV004787524	likely benign	APC-related disorder	2019-04-24	no assertion criteria provided	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).