ClinVar Miner

Submissions for variant NM_000128.4(F11):c.1613C>T (p.Pro538Leu)

gnomAD frequency: 0.00010  dbSNP: rs139695003
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169580 SCV000221084 likely pathogenic Hereditary factor XI deficiency disease 2015-01-26 criteria provided, single submitter literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV000169580 SCV000899536 likely pathogenic Hereditary factor XI deficiency disease 2019-02-01 criteria provided, single submitter research
Mendelics RCV000169580 SCV002519643 pathogenic Hereditary factor XI deficiency disease 2022-05-04 criteria provided, single submitter clinical testing

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