Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000442335 | SCV000523799 | likely benign | not specified | 2017-09-14 | 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. |
Invitae | RCV001080953 | SCV000541279 | likely benign | Developmental and epileptic encephalopathy, 36 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000442335 | SCV000593101 | uncertain significance | not specified | 2016-09-20 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000470814 | SCV001142984 | uncertain significance | not provided | 2019-01-18 | criteria provided, single submitter | clinical testing |