ClinVar Miner

Submissions for variant NM_000128.4(F11):c.374A>G (p.Tyr125Cys)

gnomAD frequency: 0.00001  dbSNP: rs1554082187
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666448 SCV000790741 uncertain significance Hereditary factor XI deficiency disease 2017-04-06 criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV000666448 SCV004013115 uncertain significance Hereditary factor XI deficiency disease criteria provided, single submitter clinical testing

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