Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001655705 | SCV001870981 | pathogenic | not provided | 2021-06-28 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34038195, 27535533) |
Laboratoire de Génétique Moléculaire, |
RCV001655705 | SCV002568845 | pathogenic | not provided | criteria provided, single submitter | clinical testing | ||
Molecular Genetics and NGS Laboratory, |
RCV001252211 | SCV004123111 | likely pathogenic | Okur-Chung neurodevelopmental syndrome | 2023-11-16 | criteria provided, single submitter | clinical testing | The variant in affected individuals is heterozygous.The affected individual has severe global developmental delay. In summary, the variant meets our criteria to be classified as likely pathogenic. |
Centre de Biologie Pathologie Génétique, |
RCV001252211 | SCV001427962 | likely pathogenic | Okur-Chung neurodevelopmental syndrome | 2019-01-01 | no assertion criteria provided | clinical testing |