Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000542967 | SCV000640039 | likely benign | Hoyeraal-Hreidarsson syndrome; Autosomal recessive dyskeratosis congenita | 2023-08-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003960317 | SCV004768707 | likely benign | DCLRE1B-related condition | 2020-03-17 | 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). |