Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000190724 | SCV000244165 | pathogenic | Inborn genetic diseases | 2013-02-06 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001781565 | SCV002016381 | pathogenic | KBG syndrome | 2020-03-20 | criteria provided, single submitter | clinical testing | |
Genome Medicine, |
RCV001781565 | SCV002562768 | pathogenic | KBG syndrome | criteria provided, single submitter | clinical testing | KBG syndrome |