Submissions for variant NM_001048174.2(MUTYH):c.888G>A (p.Ser296=)

dbSNP: rs771683103

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000528615	SCV000639369	likely benign	Familial adenomatous polyposis 2	2023-10-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000575298	SCV000662602	likely benign	Hereditary cancer-predisposing syndrome	2015-10-20	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.
Color Diagnostics, LLC DBA Color Health	RCV000575298	SCV000690618	likely benign	Hereditary cancer-predisposing syndrome	2017-02-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001707728	SCV000722244	likely benign	not provided	2019-03-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000609555	SCV001361131	likely benign	not specified	2019-10-31	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000575298	SCV002532348	likely benign	Hereditary cancer-predisposing syndrome	2021-04-23	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV000528615	SCV004835259	likely benign	Familial adenomatous polyposis 2	2024-02-05	criteria provided, single submitter	clinical testing