ClinVar Miner

Submissions for variant NC_000016.10:g.(?_89758567)_(89808377_?)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 RCV001033863 SCV001197170 pathogenic Fanconi anemia 2022-02-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is also known as c.523-?_2981+?del. A similar copy number variant has been observed in individual(s) with Fanconi anemia (PMID: 24584348). This variant is a gross deletion of the genomic region encompassing exon(s) 6-30 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).

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