ClinVar Miner

Submissions for variant NM_001256545.2(MEGF10):c.[230G>A];[284del]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV004799655 SCV005420923 likely pathogenic Congenital myopathy 10b, mild variant 2024-12-09 criteria provided, single submitter clinical testing

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