ClinVar Miner

Submissions for variant NC_000023.10:g.(?_138633201)_(138633443_?)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 RCV004582042 SCV005067389 pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2023-03-02 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 6 of the F9 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in F9 are known to be pathogenic (PMID: 20301668). A similar copy number variant has been observed in individuals with hemophilia B (PMID: 23093250, 32875744). For these reasons, this variant has been classified as Pathogenic.

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