Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000908406 | SCV001053163 | likely benign | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001818806 | SCV002066553 | uncertain significance | not specified | 2017-08-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003958276 | SCV004767662 | likely benign | POMGNT2-related condition | 2022-08-09 | 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). |