Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000653308 | SCV000775187 | benign | Epilepsy, familial focal, with variable foci 3 | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001692253 | SCV001907458 | benign | not provided | 2020-05-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003907916 | SCV004724853 | likely benign | NPRL3-related condition | 2021-10-28 | 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). |