Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626721 | SCV000747424 | uncertain significance | Seizure; Hemivertebrae; Polycystic kidney disease; Atrial septal defect, ostium secundum type; Missing ribs; Dry skin; Abnormality of the nail; Abnormal cortical gyration; Hyperechogenic kidneys; Periventricular heterotopia; Plantar crease between first and second toes; Overlapping fingers | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002507050 | SCV002815624 | uncertain significance | Polycystic kidney disease, adult type | 2022-02-01 | criteria provided, single submitter | clinical testing |