ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.645+1G>T (rs267607689)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000220374 SCV000278343 pathogenic Hereditary cancer-predisposing syndrome 2015-08-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Well-characterized mutation at same position
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076660 SCV000107695 likely pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Interrupts canonical splice site (splicing aberration not quantified)

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