Submissions for variant NM_000038.6(APC):c.1023A>G (p.Gln341=)

gnomAD frequency: 0.00002  dbSNP: rs774764623

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001720067	SCV000518982	likely benign	not provided	2019-07-05	criteria provided, single submitter	clinical testing
Invitae	RCV003743708	SCV000562581	likely benign	Familial adenomatous polyposis 1	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000568024	SCV000667311	likely benign	Hereditary cancer-predisposing syndrome	2015-03-07	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.
Color Diagnostics, LLC DBA Color Health	RCV000568024	SCV000681440	likely benign	Hereditary cancer-predisposing syndrome	2016-06-08	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000568024	SCV002528796	likely benign	Hereditary cancer-predisposing syndrome	2021-03-08	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003897861	SCV004716087	likely benign	APC-related condition	2023-03-06	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).