Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000853103 | SCV000995958 | likely pathogenic | Enlarged kidney; Multiple renal cysts; Reduced renal corticomedullary differentiation | 2019-05-30 | no assertion criteria provided | research | |
OMIM | RCV000991226 | SCV001142622 | pathogenic | Neuromuscular disease and ocular or auditory anomalies with or without seizures | 2020-07-14 | no assertion criteria provided | literature only | |
University of Washington Center for Mendelian Genomics, |
RCV001261675 | SCV001438980 | likely pathogenic | Neurodevelopmental disorders | no assertion criteria provided | research |