ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1965A>G (p.Val655=)

dbSNP: rs767941059
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000776233 SCV000911457 likely benign Hereditary cancer-predisposing syndrome 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV002067325 SCV002387454 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-27 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000776233 SCV002534433 likely benign Hereditary cancer-predisposing syndrome 2021-05-17 criteria provided, single submitter curation
Ambry Genetics RCV000776233 SCV002721474 likely benign Hereditary cancer-predisposing syndrome 2020-03-02 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.
All of Us Research Program, National Institutes of Health RCV004001467 SCV004825083 likely benign Lynch syndrome 2024-01-08 criteria provided, single submitter clinical testing

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