Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033047 | SCV001196354 | uncertain significance | Arrhythmogenic right ventricular dysplasia 10 | 2019-06-20 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the DSG2 gene. The boundaries of this event are unknown as they extend 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. This variant has not been reported in the literature in individuals with DSG2-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. |
Invitae | RCV001372123 | SCV001568724 | uncertain significance | Familial amyloid neuropathy | 2020-10-06 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing the full coding sequence of the TTR gene. The boundaries of this event are unknown as they extend 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. A similar entire coding sequence duplication has been observed in an individual affected with hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) (Invitae). 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. |