ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1077-1G>C (rs267607944)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491682 SCV000580498 pathogenic Hereditary cancer-predisposing syndrome 2017-01-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Color RCV000491682 SCV000684902 likely pathogenic Hereditary cancer-predisposing syndrome 2018-10-06 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076019 SCV000107040 likely pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Interrupts canonical acceptor splice site

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