ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1628A>G (p.Gln543Arg) (rs200173000)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431250 SCV000513387 benign not specified 2016-11-21 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000431250 SCV000703137 likely benign not specified 2016-11-21 criteria provided, single submitter clinical testing
Invitae RCV000650685 SCV000772532 benign not provided 2019-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716566 SCV000847407 likely benign Seizures 2017-10-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
CeGaT Praxis fuer Humangenetik Tuebingen RCV000650685 SCV001155839 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing

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