Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031902 | SCV001195209 | uncertain significance | Bethlem myopathy 1 | 2019-11-20 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exons 5-7 of the COL6A2 gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals with COL6A2-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. |