Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Human Genetics and Genomic Medicine, |
RCV001526398 | SCV001712122 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2021-06-09 | criteria provided, single submitter | clinical testing | The variant was detected in homozygosity in a patient with clinical suspicion of CMT. The patient's phenotype is within the ARSACS spectrum (Baets, J., 2010). Segregation analyses to exclude pseudo-homozygosity could not be performed . No other pathogenic variants were detected in relevant genes. The variant is absent from controls and it has not yet been reported in clinical databases. Formally, it is a variant of uncertain significance. |