Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000596921 | SCV000702901 | uncertain significance | not provided | 2016-11-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001088769 | SCV001085931 | likely benign | Generalized epilepsy-paroxysmal dyskinesia syndrome | 2023-12-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003952953 | SCV004770420 | likely benign | KCNMA1-related condition | 2019-07-10 | 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). |