Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV000788563 | SCV000927716 | uncertain significance | not provided | 2018-05-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000788563 | SCV000984223 | likely benign | not provided | 2018-04-19 | 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 |
RCV002535781 | SCV002940180 | likely benign | Ehlers-Danlos syndrome, type 4 | 2023-08-27 | criteria provided, single submitter | clinical testing |