Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Diagnostics Division, |
RCV001009331 | SCV001162775 | pathogenic | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | 2020-02-24 | criteria provided, single submitter | research | This variant is detected in sibship presented with microcephaly, born to a consanguineous parents. The variant is a frameshift deletion in the exon 6 of the WDR62 gene. Variation in this gene is reported to cause microcephaly. |