ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.985C>T (p.Leu329=) (rs147165522)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000225819 SCV000290499 benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000279162 SCV000338579 likely benign not specified 2016-01-21 criteria provided, single submitter clinical testing
GeneDx RCV000279162 SCV000730858 benign not specified 2017-03-02 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.
Ambry Genetics RCV000716953 SCV000847798 likely benign Seizures 2016-03-21 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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