ClinVar Miner

Submissions for variant NM_000062.3(SERPING1):c.623dup (p.Ala209fs)

dbSNP: rs2135311324
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA-diagnostics Laboratory, Research Centre For Medical Genetics RCV004577957 SCV005061748 pathogenic Hereditary angioedema type 1 2024-06-01 criteria provided, single submitter research The c.623_624insA variant in SERPING1 meets ACMG/ClinGen SVI guidance criteria to be classified as pathogenic: PVS1, PP4_Str, PM2_Sup
Peking Union Medical College Hospital RCV002221672 SCV001977593 pathogenic Hereditary angioedema with C1Inh deficiency 2021-09-25 no assertion criteria provided research

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