ClinVar Miner

Submissions for variant NC_000016.9:g.(?_89818526)_(89874795_?)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 RCV001953588 SCV002246473 pathogenic Fanconi anemia 2022-10-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with Fanconi anemia (PMID: 15059067, 29797310). It has also been observed to segregate with disease in related individuals. This variant is a gross deletion of the genomic region encompassing exon(s) 6-31 of the FANCA gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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