Submissions for variant NM_000038.6(APC):c.15A>G (p.Ser5=)

dbSNP: rs1554067106

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000561552	SCV000667493	likely benign	Hereditary cancer-predisposing syndrome	2016-02-07	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	RCV000561552	SCV000686842	likely benign	Hereditary cancer-predisposing syndrome	2016-08-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV004561659	SCV001203192	likely benign	Familial adenomatous polyposis 1	2024-08-07	criteria provided, single submitter	clinical testing
GeneDx	RCV002225669	SCV002504495	likely benign	not provided	2019-04-11	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Sema4, Sema4	RCV000561552	SCV002528281	uncertain significance	Hereditary cancer-predisposing syndrome	2021-10-25	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV004000964	SCV004841684	likely benign	Classic or attenuated familial adenomatous polyposis	2023-11-30	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004561659	SCV004931396	benign	Familial adenomatous polyposis 1	2024-02-22	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.