Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000627285 | SCV000748277 | pathogenic | not provided | 2023-12-13 | criteria provided, single submitter | clinical testing | Reported in multiple individuals with MCPH, primary microcephaly with cortical malformation, or microcephalic primordial dwarfism, who also harbored a second ASPM variant; however phase was undetermined (PMID: 29243349); 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: 29243349) |
Fulgent Genetics, |
RCV000762873 | SCV000893253 | pathogenic | Microcephaly 5, primary, autosomal recessive | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000762873 | SCV004178609 | pathogenic | Microcephaly 5, primary, autosomal recessive | 2023-04-11 | criteria provided, single submitter | clinical testing |