ClinVar Miner

Submissions for variant NM_000132.4(F8):c.5855T>A (p.Val1952Glu)

dbSNP: rs2123996355
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002272639 SCV002556566 pathogenic Hereditary factor VIII deficiency disease 2019-09-06 criteria provided, single submitter clinical testing

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