Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000414964 | SCV000493022 | likely pathogenic | Cleft upper lip; Narrow nasal bridge; Underdeveloped nasal alae; Finger syndactyly; Sparse hair; 4-5 finger syndactyly; Edema of the dorsum of feet | 2014-03-24 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001198403 | SCV001369329 | likely pathogenic | Atrioventricular septal defect and common atrioventricular junction | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. |