ITHANET variant data submitted to ClinVar

The ITHANET portal has completed the submission of 288 variation-phenotype relationships to ClinVar. Specifically, the submitted variants hold asserted relationship to either α- or β-thalassaemia and spanned one or more globin genes. Importantly, 151 of the submitted variants were novel, whilst a total of 57 alleles already existing in ClinVar were annotated with a new phenotype. All ClinVar links produced by the submission have been integrated into the IthaGenes database. For more information and the records submitted to ClinVar, see here.