ClinVar Miner

Submissions for variant NC_000016.9:g.(?_89880918)_(89881031_?)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 RCV001383542 SCV001582701 pathogenic Fanconi anemia 2021-12-02 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 3 of the FANCA 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 FANCA are known to be pathogenic (PMID: 19367192). A similar copy number variant has been observed in individual(s) with clinical features of Fanconi Anemia (PMID: 15523645, 21273304, 29098742). For these reasons, this variant has been classified as Pathogenic.

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