Submissions for variant NM_000038.6(APC):c.5052T>C (p.Phe1684=)

dbSNP: rs1489564235

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV004024126	SCV000647555	likely benign	Familial adenomatous polyposis 1	2024-04-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000573552	SCV000675889	likely benign	Hereditary cancer-predisposing syndrome	2016-03-24	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	RCV000573552	SCV001347695	likely benign	Hereditary cancer-predisposing syndrome	2016-05-03	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004024126	SCV004931231	benign	Familial adenomatous polyposis 1	2024-03-28	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.