Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001031746 | SCV001195052 | pathogenic | Branchiootorenal syndrome 1 | 2019-12-03 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exon 11 of the EYA1 gene. It preserves the integrity of the reading frame. Similar copy number variants have been observed in individuals affected with clinical features of branchiootorenal syndrome (PMID: 19206155, Invitae). This exon is also known as exon 9 in the literature. For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV001387704 | SCV001588383 | pathogenic | Melnick-Fraser syndrome | 2021-08-12 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 11 of the EYA1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individuals with clinical features of branchiootorenal syndrome (PMID: 19206155; Invitae). This variant is also known as exon 9. The region of the EYA1 gene that includes exon(s) 11 has been determined to be clinically significant (PMID: 19206155; Invitae). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |