ClinVar Miner

Submissions for variant NC_000001.11:g.(?_216270461)_(216260162_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Shared Resource Centre "Genome", Research Centre for Medical Genetics RCV002444387 SCV002754447 pathogenic Usher syndrome type 2A 2022-11-10 criteria provided, single submitter clinical testing

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