ClinVar Miner

Submissions for variant NC_000005.10:g.(?_90848637)_(90863857_?)dup

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Total submissions: 1
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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.

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