ClinVar Miner

Submissions for variant NC_000023.11:g.(?_139530701)_(139563439_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000815264 SCV000955713 pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2021-12-31 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the F9 gene has been identified. Loss-of-function variants in F9 are known to be pathogenic (PMID: 20301668). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individuals with Hemophilia B (PMID: 2198809, 3029178, 4045960, 8304338, 24375831). For these reasons, this variant has been classified as Pathogenic.

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