Submissions for variant NM_000179.3(MSH6):c.3396T>A (p.Val1132=)

gnomAD frequency: 0.00001  dbSNP: rs1026907245

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000538370	SCV000624854	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-12	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000773087	SCV000906528	likely benign	Hereditary cancer-predisposing syndrome	2016-05-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000773087	SCV001181634	likely benign	Hereditary cancer-predisposing syndrome	2018-01-16	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.
Genetic Services Laboratory, University of Chicago	RCV000582165	SCV002067733	likely benign	not specified	2019-01-02	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV002476084	SCV002774195	likely benign	not provided	2021-07-20	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004003692	SCV004835063	likely benign	Lynch syndrome	2023-05-31	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000582165	SCV000691938	likely benign	not specified		no assertion criteria provided	clinical testing