ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.488T>A (p.Val163Asp) (rs63750214)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492044 SCV000580473 likely pathogenic Hereditary cancer-predisposing syndrome 2015-12-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Rarity in general population databases (dbsnp, esp, 1000 genomes),Other data supporting pathogenic classification
Color RCV000492044 SCV000690112 likely pathogenic Hereditary cancer-predisposing syndrome 2018-10-06 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076610 SCV000107646 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability >0.99

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