Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostic Laboratory, |
RCV001260647 | SCV001437739 | likely pathogenic | Intellectual disability | 2020-09-10 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001270427 | SCV002604939 | likely pathogenic | Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 | 2022-11-18 | criteria provided, single submitter | clinical testing | |
Service de Génétique Moléculaire, |
RCV001270427 | SCV001450716 | pathogenic | Intellectual disability, autosomal dominant 6; Developmental and epileptic encephalopathy, 27 | no assertion criteria provided | clinical testing | ||
Prevention |
RCV004538546 | SCV004112928 | likely pathogenic | GRIN2B-related disorder | 2024-06-19 | no assertion criteria provided | clinical testing | The GRIN2B c.1556G>A variant is predicted to result in the amino acid substitution p.Arg519Gln. This variant was reported in at least one individual with undefined neurodevelopmental disorder/autism (Dataset 4&5, Wang et al 2020. PubMed ID: 33004838; Dataset 2, Zhou et al. 2022. PubMed ID: 35982159). This variant has not been reported in a large population database, indicating it is rare. This variant is interpreted as likely pathogenic. |