Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003119977 | SCV003795716 | uncertain significance | Aicardi-Goutieres syndrome 3 | 2022-07-20 | criteria provided, single submitter | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the RNASEH2C gene has been identified. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RNASEH2C 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. This variant has not been reported in the literature in individuals affected with RNASEH2C-related conditions. 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. |
| Labcorp Genetics |
RCV003109848 | SCV003791851 | pathogenic | not provided | 2022-07-20 | flagged submission | clinical testing | A gross deletion of the genomic region encompassing the full coding sequence of the RELA gene has been identified. Loss-of-function variants in RELA are known to be pathogenic (PMID: 28600438). 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 RELA-related conditions. For these reasons, this variant has been classified as Pathogenic. |