Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000531776 | SCV000628335 | pathogenic | Neurofibromatosis, type 1 | 2017-05-25 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the NF1 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Gross deletions of the NF1 gene have been observed in many neurofibromatosis patients and are known to be pathogenic (PMID: 8116612, 8931693, 9643287). For these reasons, this variant has been classified as Pathogenic. |