Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000900334 | SCV001044646 | benign | not provided | 2023-07-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001002310 | SCV001160203 | benign | Retinitis pigmentosa 25 | 2023-10-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003950552 | SCV004758830 | likely benign | EYS-related condition | 2019-12-06 | 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, |
RCV001002310 | SCV001455492 | uncertain significance | Retinitis pigmentosa 25 | 2020-01-24 | no assertion criteria provided | clinical testing |