Submissions for variant NM_000179.3(MSH6):c.1444C>A (p.Arg482=)

dbSNP: rs63750909

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163642	SCV000214212	likely benign	Hereditary cancer-predisposing syndrome	2017-02-21	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.
GeneDx	RCV001704170	SCV000524000	likely benign	not provided	2018-04-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000553331	SCV000624650	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-10-29	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163642	SCV001342164	likely benign	Hereditary cancer-predisposing syndrome	2018-11-26	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003995267	SCV004843566	likely benign	Lynch syndrome	2023-06-08	criteria provided, single submitter	clinical testing