ClinVar Miner

Submissions for variant NM_000128.4(F11):c.1327C>T (p.Arg443Cys)

gnomAD frequency: 0.00003  dbSNP: rs369435407
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001781068 SCV002024542 likely pathogenic Hereditary factor XI deficiency disease 2019-06-25 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV004793518 SCV005410642 uncertain significance not provided 2024-08-01 criteria provided, single submitter clinical testing PP3, PM1_supporting

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