Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001975211 | SCV002240254 | pathogenic | Diamond-Blackfan anemia | 2021-12-06 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the RPS19 gene has been identified. Loss-of-function variants in RPS19 are known to be pathogenic (PMID: 20960466). 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 individual(s) with Diamond-Blackfan anemia (PMID: 10590074, 22045982, 22262766). For these reasons, this variant has been classified as Pathogenic. |