ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2149+3A>C (rs1474808070)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768309 SCV000898954 uncertain significance Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 2018-10-24 criteria provided, single submitter clinical testing SCN2A NM_021007.2 exon 13 c.2149+3A>C: This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant; splice prediction tools are unclear on splicing impact. 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.

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