ClinVar Miner

Submissions for variant NM_000133.4(F9):c.1151G>T (p.Arg384Leu)

dbSNP: rs137852283
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000011414 SCV000031646 pathogenic Thrombophilia, X-linked, due to factor 9 defect 2009-10-22 no assertion criteria provided literature only
GeneReviews RCV000119810 SCV000154736 not provided Hereditary factor IX deficiency disease no assertion provided literature only

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