ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.1913_1926dupGATTACCCCTTCTG (p.Ile643Aspfs) (rs587778958)

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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) RCV000075421 SCV000106416 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202103 SCV000257073 likely pathogenic not provided no assertion criteria provided research

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