Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001090540 | SCV001246145 | pathogenic | not provided | 2018-07-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001090540 | SCV001769714 | pathogenic | not provided | 2022-12-16 | 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; This variant is associated with the following publications: (PMID: 32581362, 32124548, 34971082) |
Institute of Human Genetics, |
RCV001788394 | SCV002556340 | pathogenic | KBG syndrome | 2022-05-02 | criteria provided, single submitter | clinical testing | |
MGZ Medical Genetics Center | RCV001788394 | SCV002580306 | pathogenic | KBG syndrome | 2021-09-10 | criteria provided, single submitter | clinical testing | |
NIHR Bioresource Rare Diseases, |
RCV001003617 | SCV001162028 | likely pathogenic | Abnormality of the nervous system | no assertion criteria provided | research | ||
Pediatric Genetics Clinic, |
RCV001788394 | SCV001712152 | pathogenic | KBG syndrome | 2021-05-13 | no assertion criteria provided | clinical testing |