Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000423971 | SCV000517076 | likely benign | not specified | 2016-07-26 | 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 | RCV000860848 | SCV001001013 | benign | DiGeorge syndrome | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001702464 | SCV004152111 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | TBX1: BS2 |
Genome Diagnostics Laboratory, |
RCV001702464 | SCV001928953 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001702464 | SCV001956781 | likely benign | not provided | no assertion criteria provided | clinical testing |