Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000173863 | SCV000225027 | uncertain significance | not provided | 2015-05-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080295 | SCV001006002 | likely benign | Spastic paraplegia | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000173863 | SCV001145330 | likely benign | not provided | 2019-02-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001277261 | SCV002026661 | likely benign | Charlevoix-Saguenay spastic ataxia | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000173863 | SCV002818969 | uncertain significance | not provided | 2022-07-07 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Natera, |
RCV001277261 | SCV001464173 | likely benign | Charlevoix-Saguenay spastic ataxia | 2020-05-02 | no assertion criteria provided | clinical testing |