Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Greenwood Genetic Center Diagnostic Laboratories, |
RCV001280781 | SCV001468107 | uncertain significance | not provided | 2020-10-22 | criteria provided, single submitter | clinical testing | |
Tartaglia Lab, |
RCV001280781 | SCV001468529 | pathogenic | not provided | 2020-12-03 | criteria provided, single submitter | research | |
3billion | RCV001391188 | SCV002012102 | pathogenic | Radio-Tartaglia syndrome | 2021-10-02 | criteria provided, single submitter | clinical testing | Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Institute of Medical Genetics and Applied Genomics, |
RCV001391188 | SCV004171125 | likely pathogenic | Radio-Tartaglia syndrome | 2023-11-28 | criteria provided, single submitter | clinical testing | |
OMIM | RCV001391188 | SCV001593174 | pathogenic | Radio-Tartaglia syndrome | 2021-05-10 | no assertion criteria provided | literature only |