Submissions for variant NM_000038.6(APC):c.5907G>C (p.Leu1969=)

dbSNP: rs200881543

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000167281	SCV000218124	likely benign	Hereditary cancer-predisposing syndrome	2014-12-23	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	RCV000167281	SCV000687051	likely benign	Hereditary cancer-predisposing syndrome	2017-09-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003765046	SCV000768430	likely benign	Familial adenomatous polyposis 1	2024-01-02	criteria provided, single submitter	clinical testing
GeneDx	RCV001534934	SCV001751904	likely benign	not provided	2020-10-16	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003317122	SCV004020509	likely benign	not specified	2023-06-22	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003995579	SCV004838119	likely benign	Classic or attenuated familial adenomatous polyposis	2023-11-20	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV003765046	SCV005083196	benign	Familial adenomatous polyposis 1	2024-04-03	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.