ClinVar Miner

Submissions for variant NM_000132.4(F8):c.225T>A (p.Asp75Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795879 SCV005418762 uncertain significance Hereditary factor VIII deficiency disease; Thrombophilia, X-linked, due to factor 8 defect criteria provided, single submitter clinical testing PM2_Supporting+PS4_Supporting+PP4

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