Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729851 | SCV000857543 | pathogenic | not provided | 2017-10-13 | criteria provided, single submitter | clinical testing | |
Genomics And Bioinformatics Analysis Resource, |
RCV003319416 | SCV004024096 | likely pathogenic | Alagille syndrome due to a JAG1 point mutation | no assertion criteria provided | research |