Submissions for variant NM_001048174.2(MUTYH):c.87C>T (p.Asn29=)

gnomAD frequency: 0.00004  dbSNP: rs141679570

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000162631	SCV000213066	likely benign	Hereditary cancer-predisposing syndrome	2014-07-07	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	RCV000227327	SCV000285923	likely benign	Familial adenomatous polyposis 2	2024-02-01	criteria provided, single submitter	clinical testing
Counsyl	RCV000227327	SCV000487379	likely benign	Familial adenomatous polyposis 2	2016-09-16	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000162631	SCV000685563	likely benign	Hereditary cancer-predisposing syndrome	2016-06-23	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000759159	SCV000888305	likely benign	not provided	2019-04-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000504500	SCV001338659	likely benign	not specified	2020-04-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000759159	SCV001882923	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000504500	SCV002552530	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000227327	SCV004843462	likely benign	Familial adenomatous polyposis 2	2024-01-11	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000759159	SCV000592676	uncertain significance	not provided		no assertion criteria provided	clinical testing
True Health Diagnostics	RCV000162631	SCV000788063	likely benign	Hereditary cancer-predisposing syndrome	2017-10-11	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004544479	SCV004771892	likely benign	MUTYH-related disorder	2019-07-12	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).