Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033368 | SCV001196675 | pathogenic | not provided | 2019-11-24 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 10-11 of the USH2A gene. It preserves the integrity of the reading frame. A similar deletion of exons 10-11 has been reported in individuals affected with Usher syndrome (PMID: 29655801, 24944099). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic. |