Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117332 | SCV000151513 | likely benign | not specified | 2013-12-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085544 | SCV000638728 | likely benign | Generalized epilepsy-paroxysmal dyskinesia syndrome | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000712120 | SCV000842541 | benign | not provided | 2017-11-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000712120 | SCV001961232 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | KCNMA1: BP4, BP7 |
Prevention |
RCV003925140 | SCV004746950 | likely benign | KCNMA1-related condition | 2019-03-18 | 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). |