Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000242096 | SCV000314318 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000242096 | SCV000730735 | likely benign | not specified | 2017-05-17 | 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 | RCV002058330 | SCV002436612 | benign | Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002244671 | SCV002515058 | benign | Drash syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002244670 | SCV002515059 | benign | Frasier syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002244672 | SCV002515060 | benign | Meacham syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002244673 | SCV002515061 | benign | Nephrotic syndrome, type 4 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002244669 | SCV002515062 | benign | Wilms tumor 1 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000242096 | SCV001807173 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000242096 | SCV001932739 | benign | not specified | no assertion criteria provided | clinical testing |