Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000605639 | SCV000714558 | benign | not specified | 2017-05-03 | 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 | RCV001083763 | SCV000752210 | benign | Glycogen storage disease IXa1 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000605639 | SCV002103443 | likely benign | not specified | 2022-02-18 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000675944 | SCV000801673 | uncertain significance | not provided | 2017-04-17 | no assertion criteria provided | clinical testing |