ClinVar Miner

Submissions for variant NC_000016.9:g.(?_89824965)_(89833665_?)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 RCV004581497 SCV005066824 pathogenic Fanconi anemia 2023-05-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the FANCA protein in which other variant(s) (Deletion Exon 30) have been determined to be pathogenic (PMID: 30792206, 32487094). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with FANCA-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 27-30 of the FANCA gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

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