ClinVar Miner

Submissions for variant NM_000128.3(F11):c.302A>G (p.Lys101Arg) (rs281875272)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667740 SCV000792239 uncertain significance Hereditary factor XI deficiency disease 2017-06-13 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000667740 SCV000899659 likely pathogenic Hereditary factor XI deficiency disease 2019-02-01 criteria provided, single submitter research
UniProtKB/Swiss-Prot RCV000059024 SCV000090545 not provided not provided no assertion provided not provided

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