Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003119698 | SCV003794151 | pathogenic | Syndromic X-linked intellectual disability Raymond type | 2022-08-28 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the ZDHHC9 gene has been identified. Loss-of-function variants in ZDHHC9 are known to be pathogenic (PMID: 17436253, 24357419). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with ZDHHC9-related conditions. For these reasons, this variant has been classified as Pathogenic. |
| Labcorp Genetics |
RCV004579605 | SCV005064534 | uncertain significance | Charcot-Marie-Tooth Neuropathy X; Combined oxidative phosphorylation deficiency | 2023-04-20 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals affected with AIFM1-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the AIFM1 gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in AIFM1 cause disease. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. |