Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001325808 | SCV001516814 | uncertain significance | Mitochondrial complex II deficiency, nuclear type 1; Paragangliomas 5 | 2017-05-11 | criteria provided, single submitter | clinical testing | This variant is a gross duplication of the genomic region spanning the intron 11-exon 12 boundary of the SDHA gene. The duplicated copy of this region appears to be inserted in intron 11. This variant has not been reported in the literature in individuals with an SDHA-related disease. In summary, this is a novel duplication with uncertain impact on SDHA protein function. It has been classified as a Variant of Uncertain Significance. |