ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.68-9C>G

gnomAD frequency: 0.00001  dbSNP: rs1284807471
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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 RCV002205991 SCV002374691 likely benign Familial hypercholesterolemia 2023-06-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV002205991 SCV004358463 uncertain significance Familial hypercholesterolemia 2023-05-25 criteria provided, single submitter clinical testing This variant causes a C to G nucleotide substitution at the -9 position of intron 1 of the LDLR gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with LDLR-related disorders in the literature. This variant has been identified in 1/249932 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV004005321 SCV004830042 likely benign Hypercholesterolemia, familial, 1 2024-07-20 criteria provided, single submitter clinical testing

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