ClinVar Miner

Submissions for variant NM_000128.4(F11):c.803G>A (p.Arg268His)

gnomAD frequency: 0.00004  dbSNP: rs201688862
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665972 SCV000790194 uncertain significance Hereditary factor XI deficiency disease 2017-03-07 criteria provided, single submitter clinical testing
GeneDx RCV003227822 SCV003924933 uncertain significance not provided 2022-11-14 criteria provided, single submitter clinical testing Observed with a second F11 variant in a patient with bleeding and reduced F11 activity in published literature; described as c.803G>A (p.Arg250His) (Duncan et al., 2008); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25525159, 19652879, 34272389, 18446632)

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