A genetic alteration is present in LOC108281177, SOX2, SOX2-OT (SOX2 5' regulatory region| SRY-box transcription factor 2| SOX2 overlapping transcript) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; Anophthalmia/microphthalmia-esophageal atresia syndrome