Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics Munich, |
RCV000172872 | SCV000223861 | pathogenic | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | 2014-01-01 | criteria provided, single submitter | research | |
OMIM | RCV000172872 | SCV000322763 | pathogenic | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | 2016-10-11 | no assertion criteria provided | literature only | |
Gene |
RCV000172872 | SCV000494141 | pathogenic | Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome | 2016-06-07 | no assertion criteria provided | literature only |