ClinVar Miner

Submissions for variant NC_000016.9:g.(?_89818536)_(89877489_?)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 RCV001963253 SCV002239714 pathogenic Fanconi anemia 2021-04-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with FANCA-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 4-31 of the FANCA gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192).

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