Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147996 | SCV000195493 | uncertain significance | Mowat-Wilson syndrome | 2014-05-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000612236 | SCV000724686 | likely benign | not specified | 2017-11-14 | 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 | RCV000147996 | SCV001691940 | likely benign | Mowat-Wilson syndrome | 2023-06-07 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000147996 | SCV002045588 | likely benign | Mowat-Wilson syndrome | 2021-11-07 | criteria provided, single submitter | clinical testing |