Submissions for variant NM_000179.3(MSH6):c.93C>T (p.Gly31=)

gnomAD frequency: 0.00001  dbSNP: rs370817805

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001703682	SCV000521756	likely benign	not provided	2019-11-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000540513	SCV000625023	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-12-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001019275	SCV001180610	likely benign	Hereditary cancer-predisposing syndrome	2017-11-06	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	RCV001019275	SCV001359461	likely benign	Hereditary cancer-predisposing syndrome	2016-05-10	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004000352	SCV004827875	likely benign	Lynch syndrome	2023-02-24	criteria provided, single submitter	clinical testing