Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000269746 | SCV000344083 | uncertain significance | not provided | 2016-09-07 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000696607 | SCV000825173 | uncertain significance | Baller-Gerold syndrome | 2023-11-06 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 862 of the RECQL4 protein (p.Ser862Leu). This variant is present in population databases (rs781636798, gnomAD 0.01%). 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: 289690). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RECQL4 protein function with a negative predictive value of 80%. 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. |
Center of Medical Genetics and Primary Health Care | RCV001269486 | SCV001449054 | uncertain significance | Malignant tumor of breast | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000269746 | SCV001979568 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000269746 | SCV001980505 | likely benign | not provided | no assertion criteria provided | clinical testing |