Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000653312 | SCV000775191 | likely benign | Epilepsy, familial focal, with variable foci 3 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001310302 | SCV001500037 | likely benign | not provided | 2022-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001310302 | SCV002031069 | likely benign | not provided | 2021-06-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003907917 | SCV004722523 | likely benign | NPRL3-related condition | 2019-08-13 | 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). |