ClinVar Miner

Submissions for variant NC_000007.13:g.(?_119914687)_(120496817_?)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 RCV001943031 SCV002183506 uncertain significance Early myoclonic encephalopathy 2022-01-13 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 KCND2-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the KCND2 gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in KCND2 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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