Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000623822 | SCV000742409 | pathogenic | Inborn genetic diseases | 2017-05-01 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001268045 | SCV001446649 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000024346 | SCV000045637 | pathogenic | Nager syndrome | 2013-08-01 | no assertion criteria provided | literature only | |
Clinical Genetics Research Group, |
RCV000024346 | SCV000245732 | pathogenic | Nager syndrome | 2012-09-07 | no assertion criteria provided | research |