Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000634515 | SCV000755831 | likely benign | Dyskeratosis congenita | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945599 | SCV004763913 | likely benign | DKC1-related condition | 2019-04-12 | 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). |