ClinVar Miner

Submissions for variant NM_000117.3(EMD):c.22del (p.Ser8fs)

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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 RCV003885427 SCV004698111 pathogenic X-linked myopathy with postural muscle atrophy 2024-02-13 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP,PS2_MOD

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