Submissions for variant NM_000251.3(MSH2):c.762T>C (p.Asn254=)

gnomAD frequency: 0.00002  dbSNP: rs587779180

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000213494	SCV000274308	likely benign	Hereditary cancer-predisposing syndrome	2015-09-28	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	RCV000759121	SCV000513653	likely benign	not provided	2021-04-19	criteria provided, single submitter	clinical testing
Invitae	RCV001088125	SCV000559207	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-18	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000213494	SCV000690129	likely benign	Hereditary cancer-predisposing syndrome	2016-03-23	criteria provided, single submitter	clinical testing
Counsyl	RCV000662531	SCV000785101	likely benign	Lynch syndrome 1	2017-04-18	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000759121	SCV000888230	likely benign	not provided	2017-12-11	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000662531	SCV004018334	benign	Lynch syndrome 1	2023-03-21	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.
PreventionGenetics, part of Exact Sciences	RCV004537298	SCV004717926	likely benign	MSH2-related disorder	2020-11-10	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health	RCV003997181	SCV004829104	likely benign	Lynch syndrome	2023-11-30	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000759121	SCV001966411	likely benign	not provided		no assertion criteria provided	clinical testing