Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000630706 | SCV000751673 | uncertain significance | Familial dysautonomia | 2017-12-20 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region encompassing the first coding exon of the IKBKAP 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 intron 2 of the IKBKAP gene. The exact location of this variant in the genome is unknown. This variant has not been reported in the literature in individuals with IKBKAP-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. |