Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000440926 | SCV000513506 | likely benign | not specified | 2016-10-04 | 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, |
RCV000755294 | SCV000604124 | benign | not provided | 2017-05-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001430456 | SCV001633196 | likely benign | Majeed syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002263674 | SCV002543543 | likely benign | Autoinflammatory syndrome | 2019-11-01 | criteria provided, single submitter | clinical testing |