Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002278903 | SCV002567296 | uncertain significance | not provided | 2022-02-10 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge |
Reference Center For Rare Oral And Dental Diseases, |
RCV003154240 | SCV003842949 | uncertain significance | Amelogenesis imperfecta type 1F | 2023-03-01 | criteria provided, single submitter | clinical testing | |
Leeds Amelogenesis Imperfecta Research Group, |
RCV003154240 | SCV003923335 | pathogenic | Amelogenesis imperfecta type 1F | 2023-05-04 | no assertion criteria provided | research |