Submissions for variant NM_001048174.2(MUTYH):c.216G>A (p.Leu72=)

gnomAD frequency: 0.00001  dbSNP: rs766958451

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000204106	SCV000259996	likely benign	Familial adenomatous polyposis 2	2023-11-17	criteria provided, single submitter	clinical testing
GeneDx	RCV001711612	SCV000513730	likely benign	not provided	2019-03-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000572276	SCV000670134	likely benign	Hereditary cancer-predisposing syndrome	2015-11-13	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	RCV000572276	SCV000690554	likely benign	Hereditary cancer-predisposing syndrome	2017-06-26	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000204106	SCV004837942	likely benign	Familial adenomatous polyposis 2	2023-11-30	criteria provided, single submitter	clinical testing