Submissions for variant NM_000038.6(APC):c.8283A>T (p.Pro2761=)

dbSNP: rs1393043478

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV004563953	SCV001654035	likely benign	Familial adenomatous polyposis 1	2022-06-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003160818	SCV003866344	likely benign	Hereditary cancer-predisposing syndrome	2023-02-17	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	RCV003160818	SCV004358669	likely benign	Hereditary cancer-predisposing syndrome	2021-10-04	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004563953	SCV005082498	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.