Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV004542094 | SCV004800293 | uncertain significance | COL11A1-related disorder | 2024-02-06 | criteria provided, single submitter | clinical testing | The COL11A1 c.484G>A variant is predicted to result in the amino acid substitution p.Gly162Arg. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001723385 | SCV001957245 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001723385 | SCV001965382 | likely pathogenic | not provided | no assertion criteria provided | clinical testing |