ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1008C>T (p.Cys336=) (rs540422455)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720171 SCV000851048 likely benign Seizures 2016-06-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Does not segregate with disease in family study (genes with incomplete penetrance)
GeneDx RCV000417933 SCV000524833 benign not specified 2016-04-01 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 RCV000528769 SCV000652898 benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2017-10-21 criteria provided, single submitter clinical testing

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