Submissions for variant NM_001048174.2(MUTYH):c.1131G>T (p.Pro377=)

dbSNP: rs876659935

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000220043	SCV000276900	likely benign	Hereditary cancer-predisposing syndrome	2014-11-26	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	RCV000640419	SCV000762010	likely benign	Familial adenomatous polyposis 2	2023-10-23	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000220043	SCV004358553	likely benign	Hereditary cancer-predisposing syndrome	2022-03-02	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000640419	SCV004835544	likely benign	Familial adenomatous polyposis 2	2024-01-11	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV004596124	SCV005090565	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing