ClinVar Miner

Submissions for variant NC_000014.8:g.(?_63174226)_(63511904_?)del

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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 RCV004578085 SCV005065553 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-09-22 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 KCNH5-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the KCNH5 gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in KCNH5 cause disease. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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