Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000941292 | SCV001087175 | likely benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003960544 | SCV004782553 | likely benign | EYS-related condition | 2019-09-13 | 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). |
Natera, |
RCV001274980 | SCV001459625 | uncertain significance | Retinitis pigmentosa 25 | 2020-01-17 | no assertion criteria provided | clinical testing |