ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.580-2A>T

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV001199565 SCV001162711 pathogenic Usher syndrome type 2 2020-01-09 criteria provided, single submitter research
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268623 SCV001447684 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center RCV001375345 SCV001572063 likely pathogenic Hearing impairment 2021-04-12 criteria provided, single submitter clinical testing PVS1_Strong, PM2_Moderate

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