Submissions for variant NM_000251.3(MSH2):c.2139G>T (p.Gly713=)

dbSNP: rs63750003

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000630364	SCV000751320	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-10-12	criteria provided, single submitter	clinical testing
Counsyl	RCV000662860	SCV000785745	uncertain significance	Lynch syndrome 1	2017-11-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001014480	SCV001175194	likely benign	Hereditary cancer-predisposing syndrome	2018-07-25	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	RCV001014480	SCV001344424	likely benign	Hereditary cancer-predisposing syndrome	2020-01-06	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000662860	SCV004018400	benign	Lynch syndrome 1	2023-03-22	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
All of Us Research Program, National Institutes of Health	RCV003997158	SCV004825669	likely benign	Lynch syndrome	2023-11-20	criteria provided, single submitter	clinical testing