Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001382493 | SCV001581281 | pathogenic | Neurofibromatosis, type 2 | 2022-07-14 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the NF2 gene has been identified. Loss-of-function variants in NF2 are known to be pathogenic (PMID: 9643284, 16983642). 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 neurofibromatosis type 2 (PMID: 9817927, 10220142, 15645494). For these reasons, this variant has been classified as Pathogenic. |