Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Human Genetics and Genomic Medicine, |
RCV001797858 | SCV002039186 | uncertain significance | Ehlers-Danlos syndrome due to tenascin-X deficiency | 2021-12-23 | criteria provided, single submitter | clinical testing | The variant has not yet been reported in databases or in the literature. The duplication leads to a frameshift and, as a consequence, to an elongated protein; a possible pathomechanism remains yet unclear. The variant is therefore regarded as a variant of unknown significance. |