Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Greenwood Genetic Center Diagnostic Laboratories, |
RCV001806923 | SCV002051576 | likely pathogenic | not provided | 2021-02-15 | criteria provided, single submitter | clinical testing | PVS1, PM2 |
Baylor Genetics | RCV003470924 | SCV004209935 | likely pathogenic | Charlevoix-Saguenay spastic ataxia | 2023-08-14 | criteria provided, single submitter | clinical testing | |
PROSPAX |
RCV003470924 | SCV005044627 | pathogenic | Charlevoix-Saguenay spastic ataxia | 2022-01-01 | criteria provided, single submitter | research |