ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1444A>T (p.Arg482Ter) (rs587779092)

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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) RCV000076160 SCV000107176 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000076160 SCV000914300 pathogenic Lynch syndrome 2019-01-30 criteria provided, single submitter research

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