Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000602057 | SCV000713920 | benign | not specified | 2018-02-22 | 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. |
Labcorp Genetics |
RCV002062158 | SCV002449276 | benign | Borjeson-Forssman-Lehmann syndrome | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV004714088 | SCV005279562 | benign | not provided | criteria provided, single submitter | not provided |