ClinVar Miner

Submissions for variant NC_000001.11:g.(?_216089003)_(216097223_?)del

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Total submissions: 1
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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.

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