Submissions for variant NM_000038.6(APC):c.3612A>G (p.Gln1204=)

dbSNP: rs864622196

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV002229157	SCV000259657	likely benign	Familial adenomatous polyposis 1	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000219798	SCV000274178	likely benign	Hereditary cancer-predisposing syndrome	2015-03-02	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.
Counsyl	RCV000205764	SCV000786536	likely benign	Familial adenomatous polyposis 1	2018-05-21	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000779737	SCV000916505	likely benign	not specified	2019-08-20	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000219798	SCV001733749	likely benign	Hereditary cancer-predisposing syndrome	2020-09-15	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000205764	SCV004020017	benign	Familial adenomatous polyposis 1	2023-03-06	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.