Submissions for variant NM_000038.6(APC):c.7221T>G (p.Gly2407=)

dbSNP: rs1554088138

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000613675	SCV000713985	likely benign	not specified	2017-07-13	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV004562643	SCV001699249	likely benign	Familial adenomatous polyposis 1	2020-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002377245	SCV002673480	likely benign	Hereditary cancer-predisposing syndrome	2022-02-03	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.	RCV004562643	SCV005085484	benign	Familial adenomatous polyposis 1	2024-04-09	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.