ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2583A>G (p.Gln861=)

dbSNP: rs63751093
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076510 SCV000107539 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability 0.001-0.049
Ambry Genetics RCV000575430 SCV000676084 likely benign Hereditary cancer-predisposing syndrome 2016-06-22 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.
Invitae RCV001428362 SCV001631059 likely benign Hereditary nonpolyposis colorectal neoplasms 2018-12-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000076510 SCV004842521 likely benign Lynch syndrome 2023-12-13 criteria provided, single submitter clinical testing

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