Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hadassah Hebrew University Medical Center | RCV000991390 | SCV001142785 | likely pathogenic | Osteopetrosis with renal tubular acidosis | 2019-06-20 | criteria provided, single submitter | clinical testing | |
Centre de Biologie Pathologie Génétique, |
RCV002274114 | SCV002558937 | likely pathogenic | Neurodevelopmental delay | criteria provided, single submitter | clinical testing |