Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000465078 | SCV000557253 | likely benign | Dyskeratosis congenita | 2023-10-05 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821320 | SCV002070639 | uncertain significance | not specified | 2019-06-24 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000465078 | SCV002536456 | uncertain significance | Dyskeratosis congenita | 2021-12-24 | criteria provided, single submitter | curation | |
Prevention |
RCV003970312 | SCV004783826 | likely benign | TINF2-related condition | 2022-09-27 | 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). |