Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626930 | SCV000747633 | likely pathogenic | Atrial septal defect; Hydronephrosis; Cerebral atrophy; Large fontanelles; Penile hypospadias; Abnormality of the nail; Teratoma; Midface retrusion | 2017-01-01 | criteria provided, single submitter | clinical testing |