Submissions for variant NM_000038.6(APC):c.2238C>T (p.Gly746=)

dbSNP: rs1304466462

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV004563990	SCV001698636	likely benign	Familial adenomatous polyposis 1	2024-03-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002432387	SCV002730968	likely benign	Hereditary cancer-predisposing syndrome	2020-02-09	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.
Myriad Genetics, Inc.	RCV004563990	SCV004933350	benign	Familial adenomatous polyposis 1	2024-03-11	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	RCV003966007	SCV004783071	likely benign	APC-related disorder	2023-04-05	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).