ClinVar Miner

Submissions for variant NM_000506.5(F2):c.1621C>T (p.Arg541Trp)

dbSNP: rs886048338
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001267437 SCV001445618 uncertain significance Inborn genetic diseases 2018-10-12 criteria provided, single submitter clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV001810011 SCV002569292 likely pathogenic Thrombophilia due to thrombin defect criteria provided, single submitter clinical testing
GeneReviews RCV001810011 SCV002058093 not provided Thrombophilia due to thrombin defect no assertion provided literature only

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