Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000502629 | SCV000594255 | uncertain significance | not specified | 2017-03-02 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000869171 | SCV001010577 | likely benign | Dyskeratosis congenita | 2024-12-26 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001807272 | SCV002055627 | likely benign | Cerebroretinal microangiopathy with calcifications and cysts 1 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003900040 | SCV004711630 | likely benign | CTC1-related disorder | 2023-09-11 | 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). |