Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV001027712 | SCV001190294 | likely pathogenic | Leydig cell agenesis | 2019-08-09 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001198285 | SCV001369165 | uncertain significance | Gonadotropin-independent familial sexual precocity | 2019-02-21 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2. |