ClinVar Miner

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

dbSNP: rs63750003
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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

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