ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1668-3C>A (rs267607844)

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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) RCV000075303 SCV000106299 likely pathogenic Lynch syndrome 2018-10-18 reviewed by expert panel curation Exon 15 skipping shown in minigene & RT-PCR & possibly 2 MSI tumours (1 from Dieumegard et al 2000 & 1 from UMD)
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000503705 SCV000592415 uncertain significance not specified 2012-10-15 criteria provided, single submitter clinical testing

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