Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Unit for Genetic & Epidemiological Research on Neurological Disorders, |
RCV000515817 | SCV000574500 | uncertain significance | Hereditary spastic paraplegia | 2017-03-07 | criteria provided, single submitter | research | |
Invitae | RCV001084459 | SCV000655845 | likely benign | Hereditary spastic paraplegia 75 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000553995 | SCV001151776 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | MAG: BS1 |
Prevention |
RCV003925415 | SCV004741707 | likely benign | MAG-related condition | 2021-02-19 | criteria provided, single submitter | 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). |