Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001402658 | SCV001604509 | likely benign | Spastic paraplegia | 2023-07-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003953732 | SCV004775973 | likely benign | SACS-related condition | 2020-02-26 | 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). |