Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000710043 | SCV000840420 | likely pathogenic | Isolated anophthalmia-microphthalmia syndrome | 2018-03-29 | criteria provided, single submitter | clinical testing | This variant was identified in a homozygous state in a patient with isolated and bilateral microphtalmia/anophtalmia. Both parents are heterozygous carrier of this variant (asymptomatic) |