Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000243718 | SCV000315007 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Genetic Services Laboratory, |
RCV000243718 | SCV000596520 | uncertain significance | not specified | 2015-08-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000550321 | SCV000652788 | likely benign | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000243718 | SCV000726297 | likely benign | not specified | 2018-01-05 | 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. |
Ce |
RCV002512071 | SCV002821184 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | POMGNT2: BP4, BP7 |