ClinVar Miner

Submissions for variant NM_000132.4(F8):c.5993A>T (p.Tyr1998Phe)

dbSNP: rs2073022685
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001093606 SCV001161703 likely benign Hereditary factor VIII deficiency disease 2020-01-01 criteria provided, single submitter clinical testing The young patient has a normal factor VIII level of 90%, as well as normal clotting analyses.

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