ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2312-136A>G

gnomAD frequency: 0.86836  dbSNP: rs2569538
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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 RCV000237643 SCV000295945 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Genome-Nilou Lab RCV000237643 SCV001738026 benign Hypercholesterolemia, familial, 1 2021-06-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717099 SCV005312111 benign not provided criteria provided, single submitter not provided

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