For some of the individuals carrying the c.5196+1137G>A mutation, whole-genome sequencing (WGS) data for probands as well as unaffected parents were available, enabling phasing of variants in the genomic region harboring ABCA4. In total, three probands affected by ABCA4-associated retinopathy in our cohort of cases recruited to the Genomics England 100,000 Genomes Project included this allele. The gene discussed is ABCA4; the disease is retinal disorder.