Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000243569 | SCV000313265 | benign | not specified | 2016-04-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000243569 | SCV000564863 | benign | not specified | 2015-04-20 | 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 | RCV001523126 | SCV001732788 | benign | Joubert syndrome 15 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000243569 | SCV001929599 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001727659 | SCV001972856 | likely benign | not provided | no assertion criteria provided | clinical testing |