ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2168-1G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV002569458 SCV002773867 likely pathogenic Usher syndrome type 2A 2021-10-28 criteria provided, single submitter clinical testing

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