ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.30G>A (p.Pro10=) (rs139034501)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173509 SCV000224628 benign not specified 2014-10-02 criteria provided, single submitter clinical testing
Invitae RCV000231322 SCV000290492 benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2018-01-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000173509 SCV000313670 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000173509 SCV000521959 benign not specified 2016-02-08 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.
Ambry Genetics RCV000715333 SCV000846162 benign Seizures 2016-05-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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