Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000434176 | SCV000526486 | likely benign | not specified | 2017-08-23 | 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. |
Genetic Services Laboratory, |
RCV000434176 | SCV000593566 | likely benign | not specified | 2016-10-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000651077 | SCV000772927 | likely benign | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 2019-12-31 | criteria provided, single submitter | clinical testing |