Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000880057 | SCV001023126 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000880057 | SCV002544624 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | CEP250: BP4, BS2 |
Fulgent Genetics, |
RCV002501368 | SCV002809532 | likely benign | Cone-rod dystrophy and hearing loss 2 | 2022-02-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003920498 | SCV004731336 | benign | CEP250-related disorder | 2022-04-04 | 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). |