Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000908893 | SCV001053677 | likely benign | Retinitis pigmentosa 12; Leber congenital amaurosis 8 | 2024-01-27 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001000422 | SCV001157230 | likely benign | not specified | 2019-02-23 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003454944 | SCV004178879 | likely benign | Leber congenital amaurosis 8 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003454945 | SCV004178880 | likely benign | Pigmented paravenous retinochoroidal atrophy | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003454943 | SCV004178881 | likely benign | Retinitis pigmentosa 12 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003923117 | SCV004744211 | likely benign | CRB1-related condition | 2019-11-26 | 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, |
RCV001271896 | SCV001453390 | uncertain significance | Leber congenital amaurosis | 2020-01-17 | no assertion criteria provided | clinical testing |