Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174728 | SCV000226089 | uncertain significance | not provided | 2014-12-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087883 | SCV001096871 | likely benign | Generalized epilepsy-paroxysmal dyskinesia syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000174728 | SCV001764379 | likely benign | not provided | 2020-07-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003927598 | SCV004738619 | likely benign | KCNMA1-related condition | 2024-02-13 | 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). |