ClinVar Miner

Submissions for variant NM_000504.4(F10):c.947A>G (p.Lys316Arg)

gnomAD frequency: 0.00030  dbSNP: rs144679674
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Total submissions: 2
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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 RCV002222131 SCV002499581 uncertain significance Hereditary factor X deficiency disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003089140 SCV003445442 likely benign not provided 2020-10-04 criteria provided, single submitter clinical testing

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