ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2581C>T (p.Gln861Ter) (rs63750291)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076509 SCV000107538 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Ambry Genetics RCV000491532 SCV000580635 pathogenic Hereditary cancer-predisposing syndrome 2012-08-30 criteria provided, single submitter clinical testing
Mendelics RCV000076509 SCV000837857 pathogenic Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing

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