ClinVar Miner

Submissions for variant NM_000132.4(F8):c.1910A>G (p.Asn637Ser)

dbSNP: rs2073315379
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV002243431 SCV002761924 pathogenic Hereditary factor VIII deficiency disease 2022-01-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001703070 SCV003831132 likely pathogenic not provided 2022-05-26 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001703070 SCV001929873 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001703070 SCV001959806 pathogenic not provided no assertion criteria provided clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002243431 SCV002515612 pathogenic Hereditary factor VIII deficiency disease no assertion criteria provided research

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