Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000861474 | SCV001001799 | benign | Dyskeratosis congenita | 2023-12-19 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000861474 | SCV002531253 | likely benign | Dyskeratosis congenita | 2021-06-17 | criteria provided, single submitter | curation | |
Prevention |
RCV003908158 | SCV004723435 | benign | CTC1-related condition | 2019-04-08 | 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). |