ClinVar Miner

Submissions for variant NC_000007.13:g.(?_120381568)_(120386101_?)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 RCV001374195 SCV001570983 uncertain significance Early myoclonic encephalopathy 2021-04-02 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 with KCND2-related conditions. This variant is a sub-genic deletion of the genomic region encompassing exons 3-5 of the KCND2 gene. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product.

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