Submissions for variant NM_000038.6(APC):c.8277T>C (p.Arg2759=)

dbSNP: rs1057523814

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000426984	SCV000533418	likely benign	not specified	2016-10-27	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.
Ambry Genetics	RCV000570924	SCV000672610	likely benign	Hereditary cancer-predisposing syndrome	2017-08-09	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV004564042	SCV001673542	likely benign	Familial adenomatous polyposis 1	2022-08-02	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004564042	SCV005083262	benign	Familial adenomatous polyposis 1	2024-04-15	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.