Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001310494 | SCV001500321 | likely benign | not provided | 2020-12-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001310494 | SCV001811358 | likely benign | not provided | 2019-08-26 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 22974711) |
Genetic Services Laboratory, |
RCV001820004 | SCV002066168 | uncertain significance | not specified | 2019-02-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003953648 | SCV004779932 | likely benign | CENPE-related disorder | 2022-08-19 | no assertion criteria provided | 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). |