ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1705+56C>T

gnomAD frequency: 0.21747  dbSNP: rs4508523
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237134 SCV000295595 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Genome-Nilou Lab RCV000237134 SCV001738017 benign Hypercholesterolemia, familial, 1 2021-06-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717097 SCV005312102 benign not provided criteria provided, single submitter not provided

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