Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV000754579 | SCV000787762 | pathogenic | Polymicrogyria | 2018-07-25 | criteria provided, single submitter | clinical testing | Truncating homozygous variation in a gene for which knocked out mice presents highly similar phenotypic presentation. |
Gene |
RCV003332220 | SCV004039874 | pathogenic | not provided | 2023-03-30 | criteria provided, single submitter | clinical testing | Nonsense 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: 25047116, 31608932) |
OMIM | RCV001777172 | SCV002014587 | pathogenic | Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies | 2021-11-10 | no assertion criteria provided | literature only |