Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001198099 | SCV001368900 | uncertain significance | Kleefstra syndrome 1 | 2019-09-06 | 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: BP1. |
Invitae | RCV001198099 | SCV002365152 | benign | Kleefstra syndrome 1 | 2022-11-19 | criteria provided, single submitter | clinical testing |