ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1237C>T (p.Gln413Ter) (rs863225387)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000490844 SCV000580399 pathogenic Hereditary cancer-predisposing syndrome 2014-07-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202046 SCV000257127 likely pathogenic not provided no assertion criteria provided clinical testing

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