Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000815913 | SCV000956392 | pathogenic | Severe combined immunodeficiency due to CORO1A deficiency | 2021-10-09 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the CORO1A gene has been identified. Loss-of-function variants in CORO1A are known to be pathogenic (PMID: 18836449, 25073507). 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 T‚àíB+NK+ severe combined immunodeficiency (SCID) (PMID: 18836449). For these reasons, this variant has been classified as Pathogenic. |