Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001920565 | SCV002186313 | uncertain significance | Spinocerebellar ataxia type 19/22 | 2021-08-07 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with KCND3-related conditions. This variant results in a copy number gain of the genomic region encompassing exon(s) 2 of the KCND3 gene. This region includes the initiator codon of the gene. This copy number gain extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |