Submissions for variant NM_000179.3(MSH6):c.615A>G (p.Glu205=)

gnomAD frequency: 0.00002  dbSNP: rs1334827373

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079261	SCV000624985	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-09-23	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000855559	SCV000695917	likely benign	not specified	2019-08-29	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000589743	SCV000888293	likely benign	not provided	2019-04-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001024959	SCV001187057	likely benign	Hereditary cancer-predisposing syndrome	2018-04-17	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.
Color Diagnostics, LLC DBA Color Health	RCV001024959	SCV001734250	likely benign	Hereditary cancer-predisposing syndrome	2020-05-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000589743	SCV001804216	likely benign	not provided	2021-04-26	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004003701	SCV004841127	likely benign	Lynch syndrome	2023-06-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537894	SCV004713139	likely benign	MSH6-related disorder	2022-11-23	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).