ClinVar Miner

Submissions for variant NM_001128228.3(TPRN):c.301G>T (p.Glu101Ter)

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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV003388921 SCV004100812 pathogenic Autosomal recessive nonsyndromic hearing loss 79 2023-11-02 criteria provided, single submitter clinical testing

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