Submissions for variant NM_001048174.2(MUTYH):c.1533T>C (p.Thr511=)

gnomAD frequency: 0.00001  dbSNP: rs756708148

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163385	SCV000213925	likely benign	Hereditary cancer-predisposing syndrome	2016-06-09	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	RCV000560674	SCV000639297	likely benign	Familial adenomatous polyposis 2	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000607333	SCV000728309	likely benign	not specified	2018-03-07	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	RCV000163385	SCV000905848	likely benign	Hereditary cancer-predisposing syndrome	2018-05-15	criteria provided, single submitter	clinical testing
Mendelics	RCV000560674	SCV001135246	likely benign	Familial adenomatous polyposis 2	2019-05-28	criteria provided, single submitter	clinical testing