ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2944-52CTCC[9] (rs55843930)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000195142 SCV000228376 benign not specified 2017-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000195142 SCV000568086 likely benign not specified 2016-01-11 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.
Genetic Services Laboratory, University of Chicago RCV000195142 SCV000247675 likely benign not specified 2015-03-24 criteria provided, single submitter clinical testing
PreventionGenetics RCV000195142 SCV000313669 likely benign not specified criteria provided, single submitter clinical testing

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