ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.543C>G (p.Gly181=) (rs1481129490)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000781999 SCV000920459 likely pathogenic Lynch syndrome 2018-10-18 reviewed by expert panel curation Patient RNA and minigene test: skip exon 6 (out of frame), no full length transcript ({PMID26247049:Klift vd et al., 2015})

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