ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.-187_-185del

dbSNP: rs1270618112
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000505217 SCV000599296 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter curation
Invitae RCV001360067 SCV001555963 uncertain significance Familial hypercholesterolemia 2021-12-18 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the LDLR gene. It does not change the encoded amino acid sequence of the LDLR protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 9610768). This variant is also known as -92 (FH-Pedi-2). ClinVar contains an entry for this variant (Variation ID: 438314). Studies have shown that this variant alters LDLR gene expression (PMID: 9610768). 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.
All of Us Research Program, National Institutes of Health RCV000505217 SCV004834517 uncertain significance Hypercholesterolemia, familial, 1 2024-01-11 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000505217 SCV000605982 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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