ClinVar Miner

Submissions for variant NC_000016.10:g.(?_89767131)_(89784974_?)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 RCV001031539 SCV001194845 pathogenic Fanconi anemia 2021-08-12 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 15-27 of the FANCA gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with FANCA-related conditions. The region of the FANCA gene that includes exon(s) 15-17 has been determined to be clinically significant (PMID: 9711872, 10521298, 17924555, 23613520). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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