ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.264G>A (p.Arg88=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003742407 SCV004473339 likely benign Familial hypercholesterolemia 2022-11-24 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health 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.

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