ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.2197C>T (p.His733Tyr) (rs1553665846)

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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) RCV000680202 SCV000807666 likely benign Lynch syndrome I 2018-06-13 reviewed by expert panel curation Multifactorial likelihood analysis posterior probability < 0.05 (0.003)
Ambry Genetics RCV000569473 SCV000662120 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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