Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003742407 | SCV004473339 | likely benign | Familial hypercholesterolemia | 2022-11-24 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004011733 | SCV004830093 | likely benign | Hypercholesterolemia, familial, 1 | 2023-06-08 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV005000000 | SCV005625839 | uncertain significance | not provided | 2023-10-27 | criteria provided, single submitter | clinical testing | The LDLR c.264G>A (p.(Arg88=) synonymous variant has not been reported in individuals with LDLR-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect LDLR mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant. |