ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2090G>T (p.Cys697Phe) (rs63750398)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076385 SCV000107412 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability >0.99
Ambry Genetics RCV000571689 SCV000669699 pathogenic Hereditary cancer-predisposing syndrome 2017-01-06 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Deficient protein function in appropriate functional assay(s);Structural Evidence;In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Moderate segregation with disease (at least 3 informative meioses) for rare diseases.
Color RCV000571689 SCV001354540 pathogenic Hereditary cancer-predisposing syndrome 2019-07-03 criteria provided, single submitter clinical testing

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