ClinVar Miner

Submissions for variant NC_000020.11:g.(?_63424157)_(63446857_?)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 RCV001031040 SCV001194346 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-07-12 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with KCNQ2-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 2-11 of the KCNQ2 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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