ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.*2196TA[7]

dbSNP: rs3980933
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000359060 SCV000410613 likely benign Hypercholesterolemia, familial, 1 2016-06-14 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000359060 SCV005438573 benign Hypercholesterolemia, familial, 1 2024-12-18 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV005230253 SCV005872323 benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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