ClinVar Miner

Submissions for variant NC_000017.10:g.(?_8136214)_(8285628_?)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 RCV001963287 SCV002244043 pathogenic Diamond-Blackfan anemia 2021-02-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with RPL26-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the RPL26 gene has been identified. Loss-of-function variants in RPL26 are known to be pathogenic (PMID: 22431104). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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