Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000862938 | SCV001003515 | benign | Hereditary spastic paraplegia 49 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001849164 | SCV002105955 | uncertain significance | Hereditary spastic paraplegia | 2022-01-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002064460 | SCV002497734 | likely benign | not provided | 2022-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002064460 | SCV003914868 | uncertain significance | not provided | 2022-10-05 | criteria provided, single submitter | clinical testing | 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 |
Prevention |
RCV003908182 | SCV004720008 | benign | TECPR2-related condition | 2019-11-26 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Natera, |
RCV000862938 | SCV001454405 | uncertain significance | Hereditary spastic paraplegia 49 | 2020-04-17 | no assertion criteria provided | clinical testing |