Submissions for variant NM_000038.6(APC):c.3207G>A (p.Arg1069=)

gnomAD frequency: 0.00001  dbSNP: rs762867687

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000426200	SCV000521891	likely benign	not specified	2015-12-01	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV000563485	SCV000667508	likely benign	Hereditary cancer-predisposing syndrome	2016-02-24	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	RCV000563485	SCV001342408	likely benign	Hereditary cancer-predisposing syndrome	2019-10-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV004563328	SCV001609547	likely benign	Familial adenomatous polyposis 1	2023-05-15	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004563328	SCV004932001	benign	Familial adenomatous polyposis 1	2024-03-18	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.