Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000626096 | SCV000746721 | uncertain significance | Left ventricular noncompaction 1 | 2017-12-18 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000996131 | SCV001150614 | uncertain significance | not provided | 2018-07-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001068174 | SCV001233266 | uncertain significance | Myofibrillar myopathy 4 | 2023-03-29 | 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 522902). This variant has not been reported in the literature in individuals affected with LDB3-related conditions. This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 144 of the LDB3 protein (p.Gly144Ser). |
Revvity Omics, |
RCV000996131 | SCV003816492 | uncertain significance | not provided | 2023-03-15 | criteria provided, single submitter | clinical testing |