ClinVar Miner

Submissions for variant NM_000133.4(F9):c.887T>A (p.Val296Glu)

dbSNP: rs1371397743
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV001265103 SCV001424901 pathogenic Hereditary factor IX deficiency disease 2019-06-01 no assertion criteria provided clinical testing

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