Submissions for variant NM_001048174.2(MUTYH):c.1288C>T (p.Leu430=)

gnomAD frequency: 0.00001  dbSNP: rs574350006

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000600980	SCV000726645	likely benign	not specified	2018-01-15	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health	RCV001184573	SCV001350594	likely benign	Hereditary cancer-predisposing syndrome	2020-03-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002066545	SCV002436282	likely benign	Familial adenomatous polyposis 2	2024-10-27	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001184573	SCV002532229	likely benign	Hereditary cancer-predisposing syndrome	2022-03-18	criteria provided, single submitter	curation
Ambry Genetics	RCV001184573	SCV002696338	likely benign	Hereditary cancer-predisposing syndrome	2021-01-25	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.