ClinVar Miner

Submissions for variant NM_000412.5(HRG):c.72C>A (p.Cys24Ter)

gnomAD frequency: 0.00019  dbSNP: rs148593044
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002222134 SCV002499593 uncertain significance Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency criteria provided, single submitter clinical testing

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