ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.560T>C (p.Leu187Pro) (rs63751444)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000581973 SCV000690118 likely pathogenic Hereditary cancer-predisposing syndrome 2018-09-19 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000076638 SCV000592468 pathogenic Lynch syndrome 2012-11-12 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076638 SCV000107673 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability >0.99

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