ClinVar Miner

Submissions for variant NC_000007.13:g.(?_119914667)_(119915821_?)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 RCV000707962 SCV000837072 uncertain significance Early myoclonic encephalopathy 2018-04-23 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing the first exon of the KCND2 gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to 5'UTR region of the KCND2 gene. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals with KCND2-related disease. 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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