ClinVar Miner

Submissions for variant NM_000133.4(F9):c.365G>T (p.Gly122Val)

dbSNP: rs1927592770
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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 RCV002245378 SCV002515590 likely pathogenic Hereditary factor IX deficiency disease no assertion criteria provided clinical testing

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