ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.646-3T>G (rs267607930)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000772131 SCV000905224 likely pathogenic Hereditary cancer-predisposing syndrome 2018-04-26 criteria provided, single submitter clinical testing
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076666 SCV000107709 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Variant causes aberrant splicing leading to truncated protein: full inactivation of variant allele.

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