ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.354T>G (p.Tyr118Ter) (rs1553350250)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662664 SCV000785354 likely pathogenic Lynch syndrome I 2017-07-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020582 SCV001182081 pathogenic Hereditary cancer-predisposing syndrome 2018-09-26 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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