Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000217468 | SCV000271180 | likely benign | not specified | 2015-05-05 | criteria provided, single submitter | clinical testing | c.8845+9G>C in intron 44 of USH2A: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence. It has been identified in 1/66680 European chromosomes by the Exome Aggr egation Consortium (ExAC, http://exac.broadinstitute.org). |