ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.366+1G>T (rs267607924)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076573 SCV000107605 likely pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Interrupts canonical donor splice site (splicing aberration not quantified)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759832 SCV000889436 pathogenic not provided 2017-10-16 criteria provided, single submitter clinical testing

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