Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000688531 | SCV000816147 | likely benign | Spastic paraplegia | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001756169 | SCV001995174 | uncertain significance | not provided | 2019-11-01 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Genome- |
RCV001784312 | SCV002026671 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV001756169 | SCV004229940 | uncertain significance | not provided | 2023-05-08 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging. |