Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001267600 | SCV001445782 | likely pathogenic | Inborn genetic diseases | 2019-07-05 | criteria provided, single submitter | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV003150417 | SCV002570418 | likely pathogenic | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | 2022-09-09 | no assertion criteria provided | research |