ClinVar Miner

Submissions for variant NC_000016.9:g.(?_89857791)_(89862446_?)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 RCV004581480 SCV005066807 pathogenic Fanconi anemia 2023-12-10 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 11-14 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 FANCA-related disease (PMID: 10094191, 24584348, 29098742). For these reasons, this variant has been classified as Pathogenic.

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