ClinVar Miner

Submissions for variant NC_000016.9:g.89871693_89878808del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001054571 SCV001218891 pathogenic Fanconi anemia 2019-03-29 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing exons 4-6 and part of exon 7 (c.284-1329_704del) of the FANCA gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Similar deletions described as deletion of exons 4-7 have been observed in individuals with clinical features of Fanconi anemia (PMID: 29098742, 26799702, Invitae). 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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