Submissions for variant NM_001048174.2(MUTYH):c.558C>T (p.Gly186=)

gnomAD frequency: 0.00001  dbSNP: rs1057524506

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000443499	SCV000535750	likely benign	not specified	2017-01-03	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	RCV000582700	SCV000690594	likely benign	Hereditary cancer-predisposing syndrome	2017-09-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000582700	SCV001187410	likely benign	Hereditary cancer-predisposing syndrome	2015-11-25	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001040269	SCV001203832	likely benign	Familial adenomatous polyposis 2	2023-12-13	criteria provided, single submitter	clinical testing
True Health Diagnostics	RCV000582700	SCV000886691	likely benign	Hereditary cancer-predisposing syndrome	2018-07-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004539914	SCV004773012	likely benign	MUTYH-related disorder	2020-02-20	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).