Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001900097 | SCV002123964 | pathogenic | not provided | 2023-08-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala362Leufs*41) in the ERCC6L2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC6L2 are known to be pathogenic (PMID: 24507776, 27185855, 29146883, 29987015). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ERCC6L2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1362273). For these reasons, this variant has been classified as Pathogenic. |
Ai |
RCV001900097 | SCV002502676 | likely pathogenic | not provided | 2022-03-29 | criteria provided, single submitter | clinical testing |