Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000386105 | SCV000395076 | uncertain significance | Saldino-Mainzer syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000386105 | SCV001417925 | benign | Saldino-Mainzer syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Department Of Translational Genomics |
RCV000256471 | SCV000322798 | likely pathogenic | Orofacial-digital syndrome III; Asphyxiating thoracic dystrophy 1 | no assertion criteria provided | research | ||
Clinical Genetics, |
RCV001795477 | SCV002034619 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001795477 | SCV002035672 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001795477 | SCV002038205 | uncertain significance | not provided | no assertion criteria provided | clinical testing |