ClinVar Miner

Submissions for variant NM_000128.4(F11):c.1186C>T (p.Arg396Cys)

gnomAD frequency: 0.00001  dbSNP: rs771896253
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169077 SCV000220246 likely pathogenic Hereditary factor XI deficiency disease 2014-04-14 criteria provided, single submitter literature only
Revvity Omics, Revvity RCV000169077 SCV003823999 pathogenic Hereditary factor XI deficiency disease 2022-05-02 criteria provided, single submitter clinical testing

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