ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2005+3_2005+14del (rs587779125)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216625 SCV000273736 likely pathogenic Hereditary cancer-predisposing syndrome 2016-09-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Well-characterized mutation at same position,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076344 SCV000107368 uncertain significance Lynch syndrome 2013-09-05 reviewed by expert panel research Insufficient evidence
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202092 SCV000257162 uncertain significance not specified no assertion criteria provided research

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