Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156259 | SCV000205975 | benign | not specified | 2013-12-27 | criteria provided, single submitter | clinical testing | Benign based on high population frequency. Also - 5'UTR and outside Kozak. |
Illumina Laboratory Services, |
RCV000275826 | SCV000459731 | uncertain significance | Primary ciliary dyskinesia | 2016-06-14 | criteria provided, single submitter | clinical testing |