Submissions for variant NM_000179.3(MSH6):c.2412A>G (p.Lys804=)

gnomAD frequency: 0.00001  dbSNP: rs201460265

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000540714	SCV000624759	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000679226	SCV000714723	likely benign	not provided	2019-04-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679226	SCV000805866	likely benign	not provided	2018-01-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001015452	SCV001176285	likely benign	Hereditary cancer-predisposing syndrome	2018-04-16	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.
Color Diagnostics, LLC DBA Color Health	RCV001015452	SCV001358089	likely benign	Hereditary cancer-predisposing syndrome	2019-04-22	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001015452	SCV002535735	likely benign	Hereditary cancer-predisposing syndrome	2021-04-23	criteria provided, single submitter	curation
All of Us Research Program, National Institutes of Health	RCV004003679	SCV004834354	likely benign	Lynch syndrome	2023-12-18	criteria provided, single submitter	clinical testing