ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1104G>A (p.Ala368=) (rs146032445)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174395 SCV000225687 likely benign not specified 2014-07-21 criteria provided, single submitter clinical testing
GeneDx RCV000174395 SCV000527369 likely benign not specified 2017-08-08 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 RCV000464114 SCV000563627 benign Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2020-11-30 criteria provided, single submitter clinical testing

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