Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002061135 | SCV002345885 | benign | not provided | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002061135 | SCV005081171 | uncertain significance | not provided | 2024-05-08 | criteria provided, single submitter | clinical testing | In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35032046, 36978159, 31395947) |
Regeneron Genetics Center, |
RCV000853207 | SCV000927114 | likely pathogenic | Global developmental delay; Brain atrophy | 2019-02-15 | no assertion criteria provided | research | Identified in cohort of patients with neurodevelopmental disorder accompanied by structural brain abnormalities |
OMIM | RCV001171373 | SCV001334064 | pathogenic | Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | 2020-05-28 | no assertion criteria provided | literature only |