Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Personalized Medicine, |
RCV000735304 | SCV000854457 | uncertain significance | Atrial septal defect; High palate; Frontal bossing; Thin upper lip vermilion; Pectus carinatum; Generalized hypotonia; Joint laxity; Abnormal cerebral white matter morphology; Downturned corners of mouth; Cerebral white matter atrophy | criteria provided, single submitter | clinical testing |