Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001197476 | SCV001368229 | uncertain significance | Menke-Hennekam syndrome 2 | 2019-05-14 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence favors the benign nature of this variant, however the evidence is insufficent to prove its benign nature. The following ACMG criteria were applied in classifying this variant: BP4. |
Invitae | RCV002559258 | SCV003257021 | likely benign | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 2023-12-11 | criteria provided, single submitter | clinical testing |