ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2083G>A (p.Val695Met) (rs772491283)

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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) RCV000781997 SCV000920454 pathogenic Lynch syndrome 2018-10-18 reviewed by expert panel curation Multifactorial likelihood analysis posterior probability > 0.99 (0.998)
Ambry Genetics RCV001014369 SCV001175067 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-07 criteria provided, single submitter clinical testing Insufficient or conflicting evidence

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