Submissions for variant NM_000038.6(APC):c.6729A>G (p.Thr2243=)

dbSNP: rs761296130

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000563520	SCV000667711	likely benign	Hereditary cancer-predisposing syndrome	2017-03-10	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
GeneDx	RCV000612562	SCV000716236	likely benign	not specified	2017-12-07	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.
Invitae	RCV003767156	SCV001019452	likely benign	Familial adenomatous polyposis 1	2024-01-09	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003983128	SCV004797987	likely benign	APC-related condition	2023-11-16	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).