Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genome Diagnostics Laboratory, |
RCV001848125 | SCV002105175 | uncertain significance | Hereditary spastic paraplegia | 2016-12-12 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002074408 | SCV002415506 | likely benign | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2022-05-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004536353 | SCV004717488 | likely benign | SETX-related disorder | 2022-04-20 | no assertion criteria provided | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |