Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000639897 | SCV000761483 | benign | Generalized epilepsy-paroxysmal dyskinesia syndrome | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001568849 | SCV001792791 | likely benign | not provided | 2021-02-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003918029 | SCV004743263 | likely benign | KCNMA1-related condition | 2022-11-14 | 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). |