ClinVar Miner

Submissions for variant NC_000002.12:g.(?_166036028)_(166039616_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001032341 SCV001195648 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-12-18 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 14-16 of the SCN1A gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be in-frame, and likely preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with SCN1A-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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