ClinVar Miner

Submissions for variant NM_000132.3(F8):c.5822A>G (p.Asn1941Ser) (rs28933682)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507616 SCV000603528 pathogenic not specified 2017-02-09 criteria provided, single submitter clinical testing
OMIM RCV000011007 SCV000031234 pathogenic Hereditary factor VIII deficiency disease 2011-03-17 no assertion criteria provided literature only

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