ClinVar Miner

Submissions for variant NM_000128.4(F11):c.1789G>A (p.Glu597Lys)

gnomAD frequency: 0.00001  dbSNP: rs281875251
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671144 SCV000796094 uncertain significance Hereditary factor XI deficiency disease 2017-12-08 criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV000671144 SCV004013079 likely pathogenic Hereditary factor XI deficiency disease criteria provided, single submitter clinical testing
GeneDx RCV000059020 SCV005325155 likely pathogenic not provided 2023-06-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 21649796, 19652879, 23305485, 22159456, 16607084)
UniProtKB/Swiss-Prot RCV000059020 SCV000090541 not provided not provided no assertion provided not provided

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