Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000865901 | SCV001006928 | likely benign | Dyskeratosis congenita | 2023-12-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003918375 | SCV004735401 | likely benign | DKC1-related condition | 2023-11-30 | 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). |