Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor- |
RCV000030817 | SCV000266525 | pathogenic | Shprintzen-Goldberg syndrome | criteria provided, single submitter | research | ||
Equipe Genetique des Anomalies du Developpement, |
RCV000030817 | SCV000966209 | pathogenic | Shprintzen-Goldberg syndrome | 2018-08-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001266120 | SCV001444292 | pathogenic | Inborn genetic diseases | 2018-12-20 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000030817 | SCV000053492 | pathogenic | Shprintzen-Goldberg syndrome | 2015-02-01 | no assertion criteria provided | literature only |