Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000623526 | SCV000741573 | uncertain significance | Inborn genetic diseases | 2016-08-01 | criteria provided, single submitter | clinical testing | |
Centre of Medical Genetics, |
RCV000991268 | SCV001448194 | likely pathogenic | Liang-Wang syndrome | 2020-11-16 | criteria provided, single submitter | curation | |
Revvity Omics, |
RCV001783118 | SCV002023215 | pathogenic | not provided | 2021-02-12 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000991268 | SCV001142648 | pathogenic | Liang-Wang syndrome | 2020-01-10 | no assertion criteria provided | literature only |