Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000836665 | SCV000978511 | benign | not provided | 2018-03-24 | 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. |
Labcorp Genetics |
RCV001513775 | SCV001721451 | benign | Cataract 39 multiple types | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001513775 | SCV001876347 | benign | Cataract 39 multiple types | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000836665 | SCV005240863 | benign | not provided | criteria provided, single submitter | not provided |