Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Claritas Genomics | RCV000170385 | SCV000222803 | pathogenic | Cockayne syndrome type 2 | 2011-11-18 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000668548 | SCV000793169 | likely pathogenic | DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 | 2017-07-31 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003765060 | SCV004650713 | pathogenic | not provided | 2023-06-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 190166). This variant has not been reported in the literature in individuals affected with ERCC6-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr1138Asnfs*7) in the ERCC6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ERCC6 are known to be pathogenic (PMID: 18628313, 29572252). |