Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000824883 | SCV000965792 | likely pathogenic | Intellectual disability, X-linked 102 | 2016-01-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001836903 | SCV002097479 | pathogenic | not provided | 2022-01-27 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32135084) |
Laboratory of Molecular Genetics |
RCV003389064 | SCV004101176 | likely pathogenic | Neurodevelopmental disorder | 2022-11-08 | criteria provided, single submitter | clinical testing | |
Clinical Laboratory Sciences Program |
RCV000824883 | SCV003927925 | pathogenic | Intellectual disability, X-linked 102 | 2023-04-01 | no assertion criteria provided | clinical testing |