ClinVar Miner

Submissions for variant NM_032730.5(RTN4IP1):c.475G>T (p.Val159Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003988681 SCV004804769 uncertain significance Optic atrophy 10 with or without ataxia, intellectual disability, and seizures 2024-03-17 criteria provided, single submitter research

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