ClinVar Miner

Submissions for variant NM_000129.4(F13A1):c.723T>G (p.Tyr241Ter)

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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 RCV003313846 SCV004013029 likely pathogenic Factor XIII, A subunit, deficiency of criteria provided, single submitter clinical testing

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