Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032995 | SCV001196302 | uncertain significance | not provided | 2019-08-22 | criteria provided, single submitter | clinical testing | This variant results in a copy number gain of the genomic region encompassing exons 79-83 of the ADGRV1 gene. While the exact position of this variant cannot be determined from this data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has been observed in individuals affected with Usher syndrome (PMID: 22147658, 25404053). This variant is also known as GPR98 c.17020-?_17856+?dup in the literature. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |