Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Fulgent Genetics, |
RCV000585754 | SCV002787045 | likely pathogenic | Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism; Tricho-dento-osseous syndrome | 2022-04-27 | criteria provided, single submitter | clinical testing | |
Leeds Amelogenesis Imperfecta Research Group, |
RCV000585754 | SCV000583455 | pathogenic | Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism; Tricho-dento-osseous syndrome | 2017-07-03 | no assertion criteria provided | research | The frameshift variant is within the final exon and therefore the protein is likely to escape nonsense mediated decay. The final 96 amino acids are expected to be lost from the 287 amino acid protein. |