ClinVar Miner

Submissions for variant NM_000133.4(F9):c.252+5G>A

dbSNP: rs1266788575
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001423 SCV001158658 pathogenic not specified 2018-12-04 criteria provided, single submitter clinical testing
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV001265096 SCV001424889 pathogenic Hereditary factor IX deficiency disease 2019-06-01 no assertion criteria provided clinical testing

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