Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Personalized Medicine, |
RCV000735401 | SCV000854556 | pathogenic | Polyhydramnios; High palate; Generalized hypotonia; Neonatal hypotonia; Decreased fetal movement; Toe clinodactyly; Abnormal cerebral white matter morphology; Abnormal nostril morphology; Secondary microcephaly; Diffuse white matter abnormalities; Generalized neonatal hypotonia; Enlarged naris; Primary microcephaly | criteria provided, single submitter | clinical testing | ||
Genetic Services Laboratory, |
RCV001816810 | SCV002066923 | likely pathogenic | not provided | 2017-10-30 | criteria provided, single submitter | clinical testing | |
Center for Personalized Medicine, |
RCV003156130 | SCV003845332 | pathogenic | See cases | 2022-12-21 | criteria provided, single submitter | clinical testing |