Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001083715 | SCV000650624 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV001288142 | SCV001475055 | benign | not specified | 2019-11-08 | criteria provided, single submitter | clinical testing | |
Leiden Muscular Dystrophy |
RCV000024443 | SCV000045738 | not provided | not provided | 2011-05-13 | no assertion provided | curation |