ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.19G>T (p.Glu7Ter) (rs375561490)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001014004 SCV001174655 pathogenic Hereditary cancer-predisposing syndrome 2019-09-30 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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