Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001008125 | SCV001167881 | pathogenic | not provided | 2023-03-25 | 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: 28756000, 25303973, 26582918, 24479948, 27535533) |
Service de Génétique Moléculaire, |
RCV001255785 | SCV001432398 | pathogenic | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | no assertion criteria provided | clinical testing |