ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.868G>T (p.Glu290Ter) (rs587779190)

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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) RCV000076740 SCV000107777 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Ambry Genetics RCV000165329 SCV000216052 pathogenic Hereditary cancer-predisposing syndrome 2017-11-03 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Fulgent Genetics,Fulgent Genetics RCV000763488 SCV000894274 pathogenic Lynch syndrome I; Turcot syndrome; Muir-Torré syndrome 2018-10-31 criteria provided, single submitter clinical testing

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