Submissions for variant NM_000038.6(APC):c.8244A>G (p.Val2748=)

dbSNP: rs1422980338

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000777108	SCV000912795	likely benign	Hereditary cancer-predisposing syndrome	2017-12-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV004561783	SCV001637351	likely benign	Familial adenomatous polyposis 1	2023-10-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000777108	SCV002681015	likely benign	Hereditary cancer-predisposing syndrome	2021-04-22	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.	RCV004561783	SCV005083127	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.