Submissions for variant NM_000179.2(MSH6):c.1560T>C (p.Gly520=) (rs762396230)

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000167452	SCV000218308	likely benign	Hereditary cancer-predisposing syndrome	2014-12-31	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Counsyl	RCV000412265	SCV000488833	likely benign	Hereditary nonpolyposis colorectal cancer type 5	2016-06-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000436719	SCV000513683	likely benign	not specified	2017-12-19	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000473073	SCV000561437	likely benign	Hereditary nonpolyposis colorectal neoplasms	2019-12-31	criteria provided, single submitter	clinical testing
Color	RCV000167452	SCV000906505	likely benign	Hereditary cancer-predisposing syndrome	2016-04-26	criteria provided, single submitter	clinical testing