Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001507258 | SCV002102426 | uncertain significance | Intellectual disability, autosomal recessive 13 | 2022-02-03 | criteria provided, single submitter | clinical testing | Despite strong evidence for its pathogenicity, this variant has to be classified as of unknown significance, according to the ACMG-criteria (Richards et al., 2015)_x000D_ Criteria applied: PS4_SUP, PM2_SUP, PM3_SUP, PP3 |
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, |
RCV001507258 | SCV001481953 | likely pathogenic | Intellectual disability, autosomal recessive 13 | 2020-01-01 | no assertion criteria provided | clinical testing |