Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001197935 | SCV001368719 | uncertain significance | Kabuki syndrome 1 | 2018-11-21 | 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,BP4. |
Ce |
RCV003389864 | SCV004130704 | uncertain significance | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | KMT2D: PM2, PP2, BP4 |