Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000887594 | SCV001031162 | likely benign | Epilepsy, familial focal, with variable foci 3 | 2023-11-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955933 | SCV004770547 | likely benign | NPRL3-related condition | 2019-03-20 | 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). |