Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000466695 | SCV000552974 | likely benign | Spastic paraplegia | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV001288373 | SCV001475438 | uncertain significance | not provided | 2023-03-17 | 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 disagree on the variant's effect on normal protein function. |
Mayo Clinic Laboratories, |
RCV001288373 | SCV004226406 | uncertain significance | not provided | 2022-12-30 | criteria provided, single submitter | clinical testing | PM2 |
PROSPAX |
RCV001833594 | SCV005061934 | likely pathogenic | Charlevoix-Saguenay spastic ataxia | 2022-01-01 | criteria provided, single submitter | research | |
Natera, |
RCV001833594 | SCV002086165 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2020-08-01 | no assertion criteria provided | clinical testing |