ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.272del (p.Asp91fs)

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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 RCV004557250 SCV005046420 likely pathogenic Usher syndrome type 1 2024-05-30 criteria provided, single submitter clinical testing PVS1, PM2, PM3_sup

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