Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514816 | SCV000609765 | likely pathogenic | not provided | 2017-05-03 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV001281524 | SCV001468833 | likely pathogenic | Intellectual disability | 2019-07-31 | criteria provided, single submitter | clinical testing | |
Greenwood Genetic Center Diagnostic Laboratories, |
RCV001814175 | SCV002061447 | likely pathogenic | Intellectual disability, autosomal recessive 27 | 2021-04-06 | criteria provided, single submitter | clinical testing | PVS1, PM2 |
Gene |
RCV000514816 | SCV003761911 | uncertain significance | not provided | 2023-01-21 | 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; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533, 31589614) |