Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704619 | SCV000569522 | likely benign | not provided | 2020-12-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000560179 | SCV000654125 | benign | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001704619 | SCV004699773 | benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | B4GAT1: BP4, BP7, BS1, BS2 |