ClinVar Miner

Submissions for variant NC_000001.10:g.(?_215987078)_(216019375_?)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 RCV001380219 SCV001578199 pathogenic not provided 2020-10-09 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exon 45-49 of the USH2A gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with USH2A-related conditions. The region of the USH2A gene that includes exons 45-49 has been determined to be clinically significant (PMID: 30190494, 30459346, Invitae). Therefore, deletions that encompass that region are likely to disrupt protein function and cause disease. For these reasons, this variant has been classified as Pathogenic.

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