Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626943 | SCV000747646 | pathogenic | Hearing impairment; Pulmonary artery atresia; Retinal coloboma; Chorioretinal coloboma | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001270169 | SCV001367984 | pathogenic | CHARGE association | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. |