ClinVar Miner

Submissions for variant NM_000132.4(F8):c.461C>T (p.Thr154Ile)

dbSNP: rs2073597378
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196377 SCV001366984 uncertain significance Hereditary factor VIII deficiency disease 2020-01-29 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3. This variant was detected in hemizygous state.

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