ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.942+17_942+29del (rs11309117)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160642 SCV000211244 benign Hereditary cancer-predisposing syndrome 2014-06-09 criteria provided, single submitter clinical testing The variant is found in HEREDICANCER,COLYNCH-HEREDIC panel(s).
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000238821 SCV000296895 benign Lynch syndrome 2015-09-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507718 SCV000601494 benign not specified 2016-11-14 criteria provided, single submitter clinical testing
Color RCV000160642 SCV000690145 benign Hereditary cancer-predisposing syndrome 2017-06-26 criteria provided, single submitter clinical testing
GeneDx RCV000507718 SCV000730711 benign not specified 2018-03-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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