Submissions for variant NM_001048174.2(MUTYH):c.612C>T (p.Thr204=)

gnomAD frequency: 0.00009  dbSNP: rs780747266

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163819	SCV000214404	likely benign	Hereditary cancer-predisposing syndrome	2015-09-03	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.
Counsyl	RCV000411321	SCV000487356	likely benign	Familial adenomatous polyposis 2	2016-05-20	criteria provided, single submitter	clinical testing
Invitae	RCV000411321	SCV000557593	likely benign	Familial adenomatous polyposis 2	2024-01-28	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000506665	SCV000601656	uncertain significance	not specified	2016-09-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163819	SCV000685659	likely benign	Hereditary cancer-predisposing syndrome	2016-11-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000506665	SCV000729073	benign	not specified	2015-05-13	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000757498	SCV000885748	likely benign	not provided	2017-10-01	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163819	SCV002532319	likely benign	Hereditary cancer-predisposing syndrome	2021-04-14	criteria provided, single submitter	curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000506665	SCV004223834	likely benign	not specified	2023-11-02	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000411321	SCV004841481	likely benign	Familial adenomatous polyposis 2	2023-11-30	criteria provided, single submitter	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000757498	SCV001905914	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000757498	SCV001951933	likely benign	not provided		no assertion criteria provided	clinical testing