ClinVar Miner

Submissions for variant NC_000017.10:g.(?_8280834)_(8283254_?)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 RCV000465764 SCV000563990 uncertain significance Diamond-Blackfan anemia 2016-09-20 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exons 3-4 of the RPL26 gene. The 5' boundary is likely confined to intron 2. The 3' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. This particular variant has not been reported in the literature in individuals with a RPL26-related disorder. In summary, the exact genomic location of this variant is unknown and the impact of this duplication on RPL26 protein function has not been established. Therefore, it has been classified as a Variant of Uncertain Significance.

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