Submissions for variant NM_000251.3(MSH2):c.438T>C (p.Gly146=)

gnomAD frequency: 0.00002  dbSNP: rs587779161

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000213659	SCV000276489	likely benign	Hereditary cancer-predisposing syndrome	2015-06-22	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.
Counsyl	RCV000412168	SCV000489457	likely benign	Lynch syndrome 1	2016-10-11	criteria provided, single submitter	clinical testing
Invitae	RCV000559419	SCV000625426	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-11-11	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000213659	SCV000904005	likely benign	Hereditary cancer-predisposing syndrome	2017-08-17	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000412168	SCV004018399	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.
CeGaT Center for Human Genetics Tuebingen	RCV003421971	SCV004146067	likely benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	MSH2: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV003997174	SCV004830277	likely benign	Lynch syndrome	2023-06-28	criteria provided, single submitter	clinical testing