ClinVar Miner

Submissions for variant NM_000128.4(F11):c.1481-9T>A

gnomAD frequency: 0.00001  dbSNP: rs372283197
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002192875 SCV002354080 likely benign not provided 2023-12-18 criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002222079 SCV002499623 uncertain significance Hereditary factor XI deficiency disease criteria provided, single submitter clinical testing

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