ClinVar Miner

Submissions for variant NC_000016.10:g.(?_89738591)_(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
Labcorp Genetics (formerly Invitae), Labcorp RCV000808648 SCV000948762 pathogenic Fanconi anemia 2022-10-27 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the FANCA gene has been identified. Loss-of-function variants in FANCA are known to be pathogenic (PMID: 19367192). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with FANCA-related conditions and/or Fanconi anemia (PMID: 9721219, 16084127, 29098742; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. For these reasons, this variant has been classified as Pathogenic.

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