ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2223C>T (p.Asp741=) (rs144118960)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717150 SCV000847998 likely benign Seizures 2016-10-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487502 SCV000575603 likely benign not provided 2017-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000616629 SCV000724558 likely benign not specified 2017-11-15 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 RCV000650682 SCV000772529 likely benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2017-09-29 criteria provided, single submitter clinical testing

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