ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.942+2T>G (rs587779195)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491479 SCV000580409 pathogenic Hereditary cancer-predisposing syndrome 2016-01-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Significant disease association in appropriately sized case-control study(ies),Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076754 SCV000107792 likely pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Interrupts canonical donor splice site

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