Submissions for variant NM_001048174.2(MUTYH):c.774G>T (p.Gly258=)

dbSNP: rs771290019

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000567739	SCV000673997	likely benign	Hereditary cancer-predisposing syndrome	2016-09-01	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	RCV000567739	SCV000913079	likely benign	Hereditary cancer-predisposing syndrome	2018-06-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000924631	SCV001070149	likely benign	Familial adenomatous polyposis 2	2024-12-28	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000567739	SCV002532335	likely benign	Hereditary cancer-predisposing syndrome	2021-02-05	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000924631	SCV004016029	likely benign	Familial adenomatous polyposis 2	2023-07-07	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000924631	SCV004843195	likely benign	Familial adenomatous polyposis 2	2023-10-06	criteria provided, single submitter	clinical testing