ClinVar Miner

Submissions for variant NC_000001.10:g.(?_216270405)_(216424460_?)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 RCV001382821 SCV001581756 pathogenic not provided 2021-08-12 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 12-22 of the USH2A gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with USH2A-related conditions. The region of the USH2A gene that includes exon(s) 21 has been determined to be clinically significant (PMID: 18273898, 27460420; Invitae). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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