Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000612226 | SCV000727125 | likely benign | not specified | 2018-01-31 | 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 | RCV000951818 | SCV001098257 | benign | Orofacial-digital syndrome IV; Joubert syndrome 18 | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000951818 | SCV002804513 | likely benign | Orofacial-digital syndrome IV; Joubert syndrome 18 | 2022-03-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001573520 | SCV004127154 | benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | TCTN3: BP4, BS1, BS2 |
Laboratory of Diagnostic Genome Analysis, |
RCV001573520 | SCV001799516 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001573520 | SCV001928582 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001573520 | SCV001967161 | likely benign | not provided | no assertion criteria provided | clinical testing |