Submissions for variant NM_000179.3(MSH6):c.2940A>G (p.Glu980=)

gnomAD frequency: 0.00001  dbSNP: rs730881818

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000160724	SCV000211358	benign	not specified	2014-08-12	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.
Invitae	RCV001084653	SCV000259989	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000491957	SCV000580204	likely benign	Hereditary cancer-predisposing syndrome	2014-08-13	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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000679230	SCV000601548	likely benign	not provided	2022-03-11	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000491957	SCV000685334	likely benign	Hereditary cancer-predisposing syndrome	2016-12-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679230	SCV000805874	likely benign	not provided	2017-03-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001142303	SCV001302728	uncertain significance	Lynch syndrome 5	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000160724	SCV002511421	likely benign	not specified	2022-04-29	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000491957	SCV002535777	likely benign	Hereditary cancer-predisposing syndrome	2021-05-21	criteria provided, single submitter	curation
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000679230	SCV004563224	likely benign	not provided	2022-12-28	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003998514	SCV004839023	likely benign	Lynch syndrome	2024-02-05	criteria provided, single submitter	clinical testing
True Health Diagnostics	RCV000491957	SCV000805273	likely benign	Hereditary cancer-predisposing syndrome	2018-04-09	no assertion criteria provided	clinical testing