Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000504108 | SCV000598153 | pathogenic | Usher syndrome, type 2A | 2016-11-08 | criteria provided, single submitter | clinical testing | This heterozygous variant in the USH2A gene (autosomal recessive transmission), was present in a female patient with Usher syndrome who also harbours a second mutation in the same gene (compound heterozygosity). |