ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2101G>T (p.Glu701Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV003322653 SCV004027624 pathogenic Lynch syndrome 2023-08-21 criteria provided, single submitter clinical testing This variant has been identified by standard clinical testing. Selected ACMG criteria: Pathogenic (I):PP4;PM2;PVS1

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