ClinVar Miner

Submissions for variant NC_000003.11:g.(?_10084233)_(10085558_?)dup

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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 RCV001973085 SCV002248821 uncertain significance Fanconi anemia 2021-08-12 criteria provided, single submitter clinical testing This variant results in a copy number gain of the genomic region encompassing exon(s) 11-14 of the FANCD2 gene. While the exact position of this variant cannot be determined from the data, sub-genic copy number gains are generally in tandem (PMID: 25640679). This variant is predicted to be in-frame, and likely preserves the integrity of the reading frame. A similar copy number variant has been observed in individual(s) with Fanconi anemia (PMID: 17436244). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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