Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000712989 | SCV000843549 | uncertain significance | not provided | 2020-03-03 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000712989 | SCV001715023 | uncertain significance | not provided | 2020-05-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001784353 | SCV002026507 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000712989 | SCV002765342 | uncertain significance | not provided | 2022-05-27 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV002534516 | SCV003442415 | likely benign | Spastic paraplegia | 2023-11-01 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001784353 | SCV002086220 | uncertain significance | Charlevoix-Saguenay spastic ataxia | 2020-09-10 | no assertion criteria provided | clinical testing |