ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.3488T>C (p.Ile1163Thr)

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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 RCV004813463 SCV005438420 likely pathogenic Bethlem myopathy 1C 2024-12-18 criteria provided, single submitter clinical testing

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