ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1422C>T (p.Arg474=) (rs372250372)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434770 SCV000530748 likely benign not specified 2016-08-08 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.
Invitae RCV000712121 SCV000563642 likely benign not provided 2019-02-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712121 SCV000842542 benign not provided 2017-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717367 SCV000848217 likely benign Seizures 2016-11-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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