ClinVar Miner

Submissions for variant NM_000132.3(F8):c.3637del (p.Ile1213fs) (rs387906450)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757244 SCV000885394 pathogenic not provided 2017-09-29 criteria provided, single submitter clinical testing The F8 c.3637delA variant has been described in the medical literature mostly in individuals with severe hemophilia, but has also been described in individuals with moderate hemophilia (see link below and references therein). The variant has not been described in population-based databases (1000 genomes, Exome Variant Server, Exome Aggregation Consortium). This variant deletes one nucleotide, which causes a frameshift, and is predicted to result in a truncated protein or absent transcript. Based on the above information, this variant is classified as pathogenic. References: http://www.factorviii-db.org/advance_search_results.php?dosearch=1&nucleotide=3637
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851976 SCV000899688 likely pathogenic Hereditary factor IX deficiency disease 2019-02-01 criteria provided, single submitter research
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000010966 SCV001160054 pathogenic Hereditary factor VIII deficiency disease 2018-10-22 criteria provided, single submitter clinical testing The F8 c.3637delA variant has been described in the medical literature mostly in individuals with severe hemophilia, but has also been described in individuals with moderate hemophilia (see link below and references therein). The variant has not been described in population-based databases (1000 genomes, Exome Variant Server, Exome Aggregation Consortium). This variant deletes one nucleotide, which causes a frameshift, and is predicted to result in a truncated protein or absent transcript. Based on the above information, this variant is classified as pathogenic.
OMIM RCV000010966 SCV000031193 pathogenic Hereditary factor VIII deficiency disease 1993-12-01 no assertion criteria provided literature only

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