Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001409050 | SCV001611060 | likely benign | Spastic paraplegia | 2023-06-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003930878 | SCV004755080 | likely benign | SACS-related condition | 2019-07-12 | 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). |