ClinVar Miner

Submissions for variant NC_000023.10:g.(?_154105777)_(154113526_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Central Laboratory of Birth Defects Prevention and Control, The Affiliated Women and Children's Hospital of Ningbo University RCV004768479 SCV005382012 uncertain significance Hereditary factor VIII deficiency disease 2024-09-30 criteria provided, single submitter clinical testing Variant summary: The CNV identified by Oxford Nanopore sequencing and optical genome mapping involves 7.75Kb duplication of part of int22h-1 in the F8 gene. Although exact breakpoints of this duplication are not known, it is expected to result in isolation of F8 gene, a known mechanism of disease (PMID: 30088696). No submitters have reported clinical-significance assessments for this CNV to ClinVar. According to the ACMG, the CNV of F8 is a variant of uncertain significance (1A, 2I (Scoring: 0.3), 3A, 5D(Scoring: 0.45))(PMID: 31690835).

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