Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000125298 | SCV000168742 | benign | not specified | 2013-01-08 | 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. |
Preventiongenetics, |
RCV000125298 | SCV000314861 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001511673 | SCV001718955 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001701517 | SCV001933911 | benign | Usher syndrome type 2C | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000125298 | SCV001742382 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000125298 | SCV001953974 | benign | not specified | no assertion criteria provided | clinical testing |