Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001198203 | SCV001369073 | likely pathogenic | Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. |
Centre for Mendelian Genomics, |
RCV000415464 | SCV000492540 | likely pathogenic | Amelogenesis imperfecta; Peripheral pulmonary artery stenosis | 2016-06-10 | no assertion criteria provided | clinical testing |