Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155638 | SCV000205346 | uncertain significance | not specified | 2013-04-05 | criteria provided, single submitter | clinical testing | The Asn67Ser variant in LDB3 has not been reported in the literature nor previou sly identified by our laboratory. This variant has also not been identified in l arge European American and African American populations by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS), though it may be present in ot her populations. Computational analyses (biochemical amino acid properties, cons ervation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong support for or a gainst an impact to the protein. At this time, additional information is needed to fully assess the clinical significance of this variant. |
Gene |
RCV000766623 | SCV000581943 | uncertain significance | not provided | 2023-09-26 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |