ClinVar Miner

Submissions for variant NM_000132.4(F8):c.788-1G>C

dbSNP: rs2073445259
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001265089 SCV000031124 pathogenic Hereditary factor VIII deficiency disease 1995-01-01 no assertion criteria provided literature only
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV001265089 SCV001424880 pathogenic Hereditary factor VIII deficiency disease 2019-06-01 no assertion criteria provided clinical testing

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