ClinVar Miner

Submissions for variant NC_000023.10:g.(?_138612860)_(139587225_?)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 RCV000823961 SCV000964836 pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2018-10-03 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. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Whole gene deletions of F9 have been reported in numerous individuals with hemophilia B (PMID: 24375831, 8304338, 3029178, 2198809, 4045960). Loss-of-function variants in F9 are known to be pathogenic (PMID: 20301668). For these reasons, this variant has been classified as Pathogenic.

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