Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV003394015 | SCV004130405 | benign | not provided | 2023-04-01 | criteria provided, single submitter | clinical testing | DLK1: BS1, BS2 |
Departement de Genetique, |
RCV001374439 | SCV001571252 | uncertain significance | Silver-Russell syndrome 1 | 2021-04-15 | no assertion criteria provided | clinical testing | The p.(His65Arg) has been identified in the heterozygous state in a patient with a clinical suspicion of Silver Russell syndrome. ). His65 is located within the second EGF-like motif of the extracellular domain of DLK1. This variant was inherited from her healthy mother, who carried the same heterozygous variant. As DLK1 is a maternally imprinted/paternally expressed gene, this variant is unlikely to explain the phenotype of the patient |