Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147916 | SCV000195408 | uncertain significance | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 2013-09-17 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001565083 | SCV001788355 | likely pathogenic | not provided | 2022-10-23 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously reported as a pathogenic or benign germline variant to our knowledge; This variant is associated with the following publications: (PMID: 27460824) |