ClinVar Miner

Submissions for variant NC_000016.10:g.(?_89808284)_(89816625_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001031708 SCV001195014 pathogenic Fanconi anemia 2019-06-01 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 1-6 of the FANCA gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 6 of the FANCA gene. This is expected to result in an absent or disrupted protein product. This variant has been observed in several individuals affected with Fanconi anemia (PMID: 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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