ClinVar Miner

Submissions for variant NM_000249.4(MLH1):c.1896+1del

dbSNP: rs267607868
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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) RCV000075406 SCV000106399 likely pathogenic Lynch syndrome 2019-06-21 reviewed by expert panel curation Interrupts canonical donor splice site
Genetics and Molecular Pathology, SA Pathology RCV002466421 SCV002761676 pathogenic Colorectal cancer, hereditary nonpolyposis, type 2 2022-06-17 criteria provided, single submitter clinical testing

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