ClinVar Miner

Submissions for variant NC_000016.9:g.(?_89849247)_(89851392_?)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 RCV004581487 SCV005066814 pathogenic Fanconi anemia 2023-09-15 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 15-17 of the FANCA gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with Fanconi anemia (PMID: 10521298). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. The region of the FANCA gene that includes exon(s) 15 and 16-17 has been determined to be clinically significant (PMID: 9711872, 17924555, 24689079; Invitae). 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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