ClinVar Miner

Submissions for variant NC_000016.9:g.(?_89824975)_(89828440_?)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 RCV002035436 SCV002227987 pathogenic Fanconi anemia 2021-07-13 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 29-30 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). A similar copy number variant has been observed in individual(s) with Fanconi anemia (PMID: 28717661). This variant is also known as c.(2778+1_2779-1)_(2981+1_2982-1)del. For these reasons, this variant has been classified as Pathogenic.

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