ClinVar Miner

Submissions for variant NM_000062.3(SERPING1):c.1029+1del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA-diagnostics Laboratory, Research Centre For Medical Genetics RCV004577704 SCV005061428 pathogenic Hereditary angioedema type 1 2024-06-01 criteria provided, single submitter research The c.1029+1delG variant in SERPING1 meets ACMG/ClinGen SVI guidance criteria to be classified as pathogenic: PVS1, PP4_Str, PM2_Sup

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