ClinVar Miner

Submissions for variant NC_000001.11:g.(?_216462679)_(216462739_?)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 RCV002444386 SCV002754446 likely pathogenic Usher syndrome type 2A 2022-11-10 criteria provided, single submitter clinical testing

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