ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1221del (p.Glu407fs)

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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 RCV002284602 SCV002574091 pathogenic Cystic fibrosis 2024-04-19 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM3,PM2_SUP

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