ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2005+1G>A (rs267607986)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078422 SCV000110273 pathogenic not provided 2017-09-28 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076337 SCV000107361 likely pathogenic Lynch syndrome 2019-06-21 reviewed by expert panel curation Interrupts canonical donor splice site

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