Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001033366 | SCV001196673 | pathogenic | Diamond-Blackfan anemia | 2022-08-31 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the RPL11 gene has been identified. Loss-of-function variants in RPL11 are known to be pathogenic (PMID: 19061985, 19773262). 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 individuals with Diamond-Blackfan anemia (PMID: 22689679). For these reasons, this variant has been classified as Pathogenic. |