Submissions for variant NM_000038.6(APC):c.4146C>G (p.Leu1382=)

gnomAD frequency: 0.00005  dbSNP: rs876658384

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000218917	SCV000273522	likely benign	Hereditary cancer-predisposing syndrome	2015-01-20	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV004563149	SCV000647500	likely benign	Familial adenomatous polyposis 1	2024-11-13	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000218917	SCV000681652	likely benign	Hereditary cancer-predisposing syndrome	2017-01-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001722177	SCV000717710	likely benign	not provided	2018-11-23	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000218917	SCV002531871	likely benign	Hereditary cancer-predisposing syndrome	2022-02-28	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV003997801	SCV004837885	likely benign	Classic or attenuated familial adenomatous polyposis	2023-12-01	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004563149	SCV004933793	benign	Familial adenomatous polyposis 1	2024-03-25	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.