Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501870 | SCV000594744 | uncertain significance | not specified | 2016-01-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000539739 | SCV000626380 | uncertain significance | Fanconi anemia | 2023-10-29 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1762 of the FANCM protein (p.Pro1762Thr). This variant is present in population databases (rs376197752, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. ClinVar contains an entry for this variant (Variation ID: 435172). 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 tolerated. 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. |
Gene |
RCV001731725 | SCV001982611 | uncertain significance | not provided | 2023-08-23 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Sema4, |
RCV002257772 | SCV002529877 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-09-07 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001731725 | SCV002774575 | uncertain significance | not provided | 2021-07-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002490832 | SCV002784750 | uncertain significance | Spermatogenic failure 28; Premature ovarian failure 15 | 2022-05-11 | criteria provided, single submitter | clinical testing |