Submissions for variant NM_000038.6(APC):c.5847A>G (p.Glu1949=)

dbSNP: rs1554087029

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003767873	SCV000768461	likely benign	Familial adenomatous polyposis 1	2024-05-18	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001191943	SCV001359884	likely benign	Hereditary cancer-predisposing syndrome	2019-01-07	criteria provided, single submitter	clinical testing
GeneDx	RCV001566972	SCV001790571	likely benign	not provided	2019-12-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001191943	SCV002650868	likely benign	Hereditary cancer-predisposing syndrome	2020-03-18	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.	RCV003767873	SCV005084469	benign	Familial adenomatous polyposis 1	2024-04-02	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.
CeGaT Center for Human Genetics Tuebingen	RCV001566972	SCV005892293	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	APC: BP4, BP7