Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000498003 | SCV000590883 | pathogenic | Severe early-childhood-onset retinal dystrophy | 2017-06-19 | criteria provided, single submitter | clinical testing | This heterozygous variant in the ABCA4 gene (AR transmission) was identified in a patient with a strong suspicion of Stargardt disease. However, despite extensive searches in the ABCA4 exome data, we were not able to identify a second variant in this gene. |
Institute of Medical Molecular Genetics, |
RCV000498003 | SCV001548035 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2021-01-30 | criteria provided, single submitter | clinical testing |