ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.*1292C>T

gnomAD frequency: 0.00379  dbSNP: rs556381931
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000338391 SCV000410584 likely benign Hypercholesterolemia, familial, 1 2016-06-14 criteria provided, single submitter clinical testing

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