ClinVar Miner

Submissions for variant NC_000016.10:g.(?_89764880)_(89773394_?)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 RCV000798821 SCV000938454 pathogenic Fanconi anemia 2018-10-03 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exons 22-28 of the FANCA gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Deletion of exons 22-28 has been observed to be homozygous or in combination with another FANCA variant in individuals affected with Fanconi anemia (PMID: 17924555, 29098742). Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). For these reasons, this variant has been classified as Pathogenic.

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