ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2389+23G>A

gnomAD frequency: 0.00006  dbSNP: rs770347398
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237318 SCV000295979 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
CeGaT Center for Human Genetics Tuebingen RCV003417849 SCV004137808 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing LDLR: BS2

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