ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.13931T>C (p.Met4644Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics, Erciyes University Faculty of Medicine RCV004691635 SCV004543792 uncertain significance Retinitis pigmentosa 39 2024-02-01 no assertion criteria provided clinical testing

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