ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.791-4_795del (rs587779041)

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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) RCV000075864 SCV000106881 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing a premature termination codon & interrupts canonical acceptor splice site
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000075864 SCV000914319 pathogenic Lynch syndrome 2019-01-30 criteria provided, single submitter research

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