ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1626A>G (p.Val542=)

dbSNP: rs1553366635
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574526 SCV000662224 likely benign Hereditary cancer-predisposing syndrome 2017-04-17 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.
Invitae RCV000630249 SCV000751205 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-01-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000574526 SCV004356693 likely benign Hereditary cancer-predisposing syndrome 2022-11-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000848 SCV004830802 likely benign Lynch syndrome 2023-10-23 criteria provided, single submitter clinical testing

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