Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415391 | SCV000492766 | likely benign | Global developmental delay; Single transverse palmar crease; Facial asymmetry; Strabismus; Ventricular septal defect | 2015-01-23 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001195860 | SCV001366281 | uncertain significance | Rhabdoid tumor predisposition syndrome 2 | 2019-10-27 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3,BS2. |
Genome- |
RCV001808791 | SCV002056161 | uncertain significance | Intellectual disability, autosomal dominant 16 | 2021-07-15 | criteria provided, single submitter | clinical testing |