ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.-215A>G

dbSNP: rs879254360
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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 RCV000237862 SCV000294361 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237862 SCV000599294 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter curation

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