ClinVar Miner

Submissions for variant NM_000505.4(F12):c.983C>G (p.Thr328Arg)

dbSNP: rs118204456
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000414902 SCV000492927 pathogenic Hyperbilirubinemia; Angioedema; Hypertensive disorder; Urticaria 2015-01-06 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198361 SCV001369270 pathogenic Factor XII deficiency disease 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic.
OMIM RCV000001229 SCV000021379 pathogenic Hereditary angioedema type 3 2006-05-19 no assertion criteria provided literature only

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