ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1212_1232dup (p.Thr411_Val412insProLysPheLysLeuAspThr)

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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 Genomics, Sir Ganga Ram Hospital RCV004813026 SCV005423737 likely pathogenic Nemaline myopathy 2 2024-12-13 criteria provided, single submitter clinical testing The identified 21 base pair duplication in NEB gene is causing the change in protein length[PM4]. The identified variant is also fulfilling the criteria of [PM3 and PM2] . It is identified in trans with another likely pathogenic variant [ c.22716T>G], hence classified as likely pathogenic

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