Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001516581 | SCV001724879 | benign | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001516581 | SCV004152656 | benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | CEP250: BP4, BS1, BS2 |
Prevention |
RCV003921125 | SCV004732421 | benign | CEP250-related disorder | 2019-10-16 | 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). |