Submissions for variant NM_000038.6(APC):c.5865T>C (p.Ala1955=)

dbSNP: rs1060504868

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV004564131	SCV000562573	likely benign	Familial adenomatous polyposis 1	2023-01-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001024621	SCV001186665	likely benign	Hereditary cancer-predisposing syndrome	2019-12-13	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	RCV001024621	SCV004363554	likely benign	Hereditary cancer-predisposing syndrome	2023-05-08	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004564131	SCV005085574	benign	Familial adenomatous polyposis 1	2024-04-03	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.