Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033044 | SCV001196351 | pathogenic | not provided | 2019-06-23 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exons 22-23 of the USH2A gene. It preserves the integrity of the reading frame. A similar deletion of exons 22-23 has been reported in individuals affected with Usher syndrome (PMID: 17405132, 23924366). 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. |