ClinVar Miner

Submissions for variant NC_000023.10:g.(?_138612860)_(138613021_?)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 RCV001383538 SCV001582694 pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2020-09-23 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 1 of the F9 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 1 of the F9 gene. This is expected to result in an absent or disrupted protein product. This variant has been observed in individual(s) with hemophilia B (PMID: 24816826, 18624698, 12588353, 2741941). 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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