ClinVar Miner

Submissions for variant NM_138691.3(TMC1):c.211_218del (p.Arg71fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Molecular Genetics Department, National Research Center RCV004698599 SCV005184325 likely pathogenic Autosomal recessive nonsyndromic hearing loss 7 2024-01-02 criteria provided, single submitter clinical testing PVS1,PM2

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