Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000159484 | SCV000209436 | likely benign | not specified | 2016-04-18 | 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 | RCV000701368 | SCV000830168 | likely benign | Mowat-Wilson syndrome | 2022-11-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000701368 | SCV002045580 | likely benign | Mowat-Wilson syndrome | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000167559 | SCV000218439 | likely benign | not provided | 2015-01-30 | no assertion criteria provided | clinical testing |