Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000308689 | SCV000354507 | benign | Warburg micro syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000365648 | SCV000354508 | benign | Martsolf syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000828468 | SCV000970159 | benign | not provided | 2018-05-10 | 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 | RCV001515778 | SCV001723928 | benign | Martsolf syndrome; Warburg micro syndrome 2 | 2024-01-31 | criteria provided, single submitter | clinical testing |