Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591371 | SCV000708493 | uncertain significance | not provided | 2017-05-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001860212 | SCV002189655 | uncertain significance | Fanconi anemia | 2023-08-01 | criteria provided, single submitter | clinical testing | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 501955). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is present in population databases (rs750580998, gnomAD 0.008%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1254 of the SLX4 protein (p.Ser1254Leu). |
Sema4, |
RCV001860212 | SCV002529331 | uncertain significance | Fanconi anemia | 2021-08-17 | criteria provided, single submitter | curation |