Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000605271 | SCV000728826 | benign | not specified | 2017-03-02 | 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. |
ARUP Laboratories, |
RCV001281867 | SCV001156847 | benign | Asphyxiating thoracic dystrophy 3 | 2023-10-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002066663 | SCV002327043 | benign | Jeune thoracic dystrophy | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000605271 | SCV001956819 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001727771 | SCV001969042 | likely benign | not provided | no assertion criteria provided | clinical testing |