ClinVar Miner

Submissions for variant NM_000128.3(F11):c.408C>A (p.Cys136Ter) (rs143648758)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169275 SCV000220580 likely pathogenic Hereditary factor XI deficiency disease 2014-08-07 criteria provided, single submitter literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851782 SCV000899717 pathogenic Abnormal bleeding 2019-02-01 criteria provided, single submitter research

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