Submissions for variant NM_000038.6(APC):c.4440G>A (p.Gln1480=)

dbSNP: rs876659881

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000217465	SCV000276802	likely benign	Hereditary cancer-predisposing syndrome	2015-06-19	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	RCV004563193	SCV000562612	likely benign	Familial adenomatous polyposis 1	2023-08-17	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000217465	SCV001353603	likely benign	Hereditary cancer-predisposing syndrome	2019-07-01	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004563193	SCV004931123	benign	Familial adenomatous polyposis 1	2024-03-26	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.