ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1462_1463del (p.Leu488fs) (rs876658834)

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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 RCV000220873 SCV000274596 pathogenic Hereditary cancer-predisposing syndrome 2015-03-21 criteria provided, single submitter clinical testing Other acmg-defined mutation (i.e. initiation codon or gross deletion);Other strong data supporting pathogenic classification
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506979 SCV000601433 pathogenic not provided 2017-06-13 criteria provided, single submitter clinical testing

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