Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032356 | SCV001195663 | uncertain significance | Primary ciliary dyskinesia | 2019-08-20 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exons 1-50 of the DNAH5 gene. The duplicated copy of this region has been determined to be in tandem (c.-239740_8448+1dup). This variant has not been reported in the literature in individuals with DNAH5-related conditions. 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. |