Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000552378 | SCV000623941 | uncertain significance | Primary ciliary dyskinesia | 2019-12-12 | criteria provided, single submitter | clinical testing | A gross duplication of the genomic region encompassing the full coding sequence of the RSPH1 gene has been identified. The boundaries of this event are unknown as the duplication extends beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this duplication 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 RSPH1-related disease. Experimental studies are not available for this duplication, and the functional significance of the extra copy of the RSPH1 gene 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. |