Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000500524 | SCV000594019 | uncertain significance | not specified | 2017-01-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000656315 | SCV001099347 | likely benign | not provided | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000656315 | SCV001800958 | likely benign | not provided | 2021-02-19 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000656315 | SCV004125575 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | CENPF: BP4 |
Prevention |
RCV003925453 | SCV004745889 | likely benign | CENPF-related condition | 2022-03-23 | 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). |
Laboratory of Molecular Genetics |
RCV000656315 | SCV000778288 | uncertain significance | not provided | 2017-11-02 | no assertion criteria provided | clinical testing |