Submissions for variant NM_000038.6(APC):c.3750A>G (p.Lys1250=)

gnomAD frequency: 0.00003  dbSNP: rs142728143

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV004564109	SCV000552698	likely benign	Familial adenomatous polyposis 1	2025-01-02	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000583952	SCV000686951	likely benign	Hereditary cancer-predisposing syndrome	2017-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000583952	SCV001182612	likely benign	Hereditary cancer-predisposing syndrome	2019-09-24	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.
Myriad Genetics, Inc.	RCV004564109	SCV004930580	benign	Familial adenomatous polyposis 1	2024-03-22	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.