ClinVar Miner

Submissions for variant NM_021090.4(MTMR3):c.1819C>T (p.Arg607Trp)

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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 RCV004813337 SCV005438156 uncertain significance Myopathy, proximal, and ophthalmoplegia 2024-12-17 criteria provided, single submitter clinical testing

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