ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1359-26_1359-23del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV003582113 SCV004358527 uncertain significance Familial hypercholesterolemia 2023-04-27 criteria provided, single submitter clinical testing This variant causes deletion of 4 nucleotides at position -26 in intron 9 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 not been identified 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 RCV004011486 SCV004834041 uncertain significance Hypercholesterolemia, familial, 1 2023-07-19 criteria provided, single submitter clinical testing This variant causes deletion of 4 nucleotides at position -26 in intron 9 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 not been identified 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.

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