ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.2595-9C>T (rs369966222)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000442373 SCV000526759 likely benign not specified 2016-04-25 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768003 SCV000898780 uncertain significance Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2017-10-25 criteria provided, single submitter clinical testing KCNT1 NM_020822.2 exon 23 c.2595-9C>T: This variant has not been reported in the literature but is present in 14/23932 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs369966222). This variant is present in ClinVar (Variation ID:385486). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000862013 SCV001002440 likely benign not provided 2018-11-25 criteria provided, single submitter clinical testing

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