Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415122 | SCV000492894 | likely pathogenic | Hypertelorism; Micrognathia; Low-set ears; Deep philtrum; Specific learning disability; Triangular face; Low anterior hairline; Mitral valve prolapse; Gastroesophageal reflux; Low posterior hairline; Abnormality of the lower limb; Thoracolumbar scoliosis; Clinodactyly; Ventricular septal defect | 2015-02-13 | criteria provided, single submitter | clinical testing |