ClinVar Miner

Submissions for variant NM_001258281.1(MSH2):c.848_849delinsGC (p.Pro283Arg) (rs1558466685)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000680197 SCV000807661 likely pathogenic Lynch syndrome I 2018-06-13 reviewed by expert panel curation Same amino acid change as pathogenic variant

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