ClinVar Miner

Submissions for variant NC_000016.10:g.(?_89748649)_(89765076_?)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 RCV001031549 SCV001194855 pathogenic Fanconi anemia 2022-01-26 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 28-33 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) 30 has been determined to be clinically significant (PMID: 10094191, 15059067, 15523645). 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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