Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000480857 | SCV000571324 | likely pathogenic | not provided | 2021-07-02 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533) |
Knight Diagnostic Laboratories, |
RCV001270090 | SCV001448905 | likely pathogenic | Pancytopenia-developmental delay syndrome | 2019-12-13 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001270090 | SCV002024508 | likely pathogenic | Pancytopenia-developmental delay syndrome | 2019-10-16 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000480857 | SCV002242873 | pathogenic | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln18*) 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 present in population databases (rs778926161, gnomAD 0.01%). 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: 421974). For these reasons, this variant has been classified as Pathogenic. |
Ai |
RCV000480857 | SCV002502602 | likely pathogenic | not provided | 2022-03-22 | criteria provided, single submitter | clinical testing |