ClinVar Miner

Submissions for variant NM_000132.4(F8):c.2044G>T (p.Val682Phe)

dbSNP: rs1569559755
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000723273 SCV000854659 pathogenic Hereditary factor VIII deficiency disease 2018-04-27 no assertion criteria provided clinical testing

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