Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003122318 | SCV003790902 | pathogenic | Diamond-Blackfan anemia 10 | 2022-10-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with Diamond-Blackfan anemia (PMID: 22045982, 22689679). A gross deletion of the genomic region encompassing the full coding sequence of the RPS26 gene has been identified. Loss-of-function variants in RPS26 are known to be pathogenic (PMID: 20116044, 23718193). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. |