Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000850539 | SCV000992748 | likely pathogenic | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 2017-12-31 | criteria provided, single submitter | clinical testing | |
Centre de Biologie Pathologie Génétique, |
RCV000850539 | SCV001427943 | likely pathogenic | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | 2019-01-01 | no assertion criteria provided | clinical testing |