Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000436461 | SCV000520501 | likely benign | not specified | 2016-11-07 | 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 | RCV002062414 | SCV002373419 | benign | Gorlin syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV001528989 | SCV001741683 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001528989 | SCV001954212 | likely benign | not provided | no assertion criteria provided | clinical testing |