Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000247677 | SCV000312115 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000530916 | SCV000652990 | benign | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000247677 | SCV000714559 | benign | not specified | 2017-05-02 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Fulgent Genetics, |
RCV002500907 | SCV002809621 | likely benign | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | 2022-04-20 | criteria provided, single submitter | clinical testing |