ClinVar Miner

Submissions for variant NM_001101362.3(KBTBD13):c.1250A>T (p.Glu417Val)

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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 Human Genetics, University of Leipzig Medical Center RCV004759677 SCV005368499 uncertain significance Nemaline myopathy 6 2024-02-28 criteria provided, single submitter clinical testing Criteria applied: PM2_SUP,BP4

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