Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000659112 | SCV000780925 | likely pathogenic | not provided | 2018-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001211921 | SCV001383486 | pathogenic | Baller-Gerold syndrome | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly120Alafs*6) in the RECQL4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RECQL4 are known to be pathogenic (PMID: 12734318, 12952869). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RECQL4-related conditions. ClinVar contains an entry for this variant (Variation ID: 547041). For these reasons, this variant has been classified as Pathogenic. |
Department of Pediatrics, |
RCV001523815 | SCV001478174 | likely pathogenic | Rothmund-Thomson syndrome type 2 | 2020-12-15 | criteria provided, single submitter | research |