Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000888473 | SCV001032109 | likely benign | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 2023-08-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003910526 | SCV004720005 | likely benign | POMGNT2-related condition | 2023-09-01 | 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). |