ClinVar Miner

Submissions for variant NM_000128.4(F11):c.155dup (p.Tyr52Ter)

dbSNP: rs1554081886
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665461 SCV000789591 likely pathogenic Hereditary factor XI deficiency disease 2017-02-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480752 SCV004227479 likely pathogenic not provided 2022-05-12 criteria provided, single submitter clinical testing PM2, PVS1

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