Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033318 | SCV001196625 | pathogenic | Multiple endocrine neoplasia, type 1 | 2022-10-24 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the MEN1 gene has been identified. Loss-of-function variants in MEN1 are known to be pathogenic (PMID: 12112656, 17853334). 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 multiple endocrine neoplasia type 1 (PMID: 11836268, 25527055). For these reasons, this variant has been classified as Pathogenic. |