Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000603152 | SCV000717786 | likely benign | not specified | 2017-03-29 | 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. |
Ce |
RCV000877253 | SCV001247622 | uncertain significance | not provided | 2019-07-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002063099 | SCV002493526 | likely benign | Aniridia 1; Irido-corneo-trabecular dysgenesis | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV000877253 | SCV002036806 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000877253 | SCV002038241 | likely benign | not provided | no assertion criteria provided | clinical testing |