ClinVar Miner

Submissions for variant NM_002906.4(RDX):c.295C>T (p.Gln99Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003984993 SCV004801194 likely pathogenic Autosomal recessive nonsyndromic hearing loss 24 2024-03-14 criteria provided, single submitter research

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