Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008258 | SCV001168024 | pathogenic | not provided | 2022-03-04 | 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: 30690204, 33880529) |
Mendelics | RCV000761210 | SCV000844968 | likely pathogenic | Epilepsy; Abnormality of neuronal migration; Arthrogryposis multiplex congenita; Hydrops fetalis | 2017-08-03 | no assertion criteria provided | clinical testing | |
OMIM | RCV001777176 | SCV002014585 | pathogenic | Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | 2021-11-10 | no assertion criteria provided | literature only |