ClinVar Miner

Submissions for variant NM_000132.4(F8):c.5306G>A (p.Gly1769Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University Hospital Muenster RCV003985710 SCV004801717 likely pathogenic Hereditary factor VIII deficiency disease 2023-03-13 criteria provided, single submitter clinical testing ACMG categories: PM1,PM2,PM5,PP2,PP3

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