Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554169 | SCV000638701 | likely benign | Generalized epilepsy-paroxysmal dyskinesia syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003905384 | SCV004719337 | likely benign | KCNMA1-related condition | 2019-08-09 | 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). |