Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000414869 | SCV000492990 | likely pathogenic | Cryptorchidism; Fetal growth restriction; Pulmonary hypoplasia; Single umbilical artery; Penile hypospadias; Microretrognathia; Long philtrum; Congenital diaphragmatic hernia; Right ventricular hypertrophy | 2014-09-18 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001196333 | SCV001366928 | likely pathogenic | Cornelia de Lange syndrome 1 | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. |