ClinVar Miner

Submissions for variant NM_000132.4(F8):c.5146C>A (p.His1716Asn)

dbSNP: rs2073172888
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics Research Program, University of Adelaide RCV001796578 SCV001737605 risk factor Cerebral palsy 2021-06-10 criteria provided, single submitter research Female obligate carrier of pathogenic F8 mutation with increased APTT, on background of prematurity and maternal pre-eclampsia.
Genetics and Molecular Pathology, SA Pathology RCV002466680 SCV002761911 uncertain significance Hereditary factor VIII deficiency disease 2021-12-02 criteria provided, single submitter clinical testing

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