Submissions for variant NM_000038.6(APC):c.5529T>A (p.Pro1843=)

gnomAD frequency: 0.00001  dbSNP: rs1060504894

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV004564156	SCV000562665	likely benign	Familial adenomatous polyposis 1	2024-12-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000563157	SCV000667399	likely benign	Hereditary cancer-predisposing syndrome	2016-04-21	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	RCV000563157	SCV000910146	likely benign	Hereditary cancer-predisposing syndrome	2018-06-18	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000563157	SCV002535708	likely benign	Hereditary cancer-predisposing syndrome	2021-08-09	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV004002225	SCV004838067	likely benign	Classic or attenuated familial adenomatous polyposis	2023-08-15	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004564156	SCV005084459	benign	Familial adenomatous polyposis 1	2024-04-02	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004689752	SCV005184826	likely benign	not specified	2024-05-13	criteria provided, single submitter	clinical testing