Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000524773 | SCV000656696 | benign | Epilepsy, familial focal, with variable foci 3 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001613377 | SCV001837595 | benign | not provided | 2018-07-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003980038 | SCV004799396 | benign | NPRL3-related condition | 2019-04-17 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |