ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.-217C>T (rs17249141)

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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 RCV000237379 SCV000294360 likely benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237379 SCV000599293 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter curation
Invitae RCV000863456 SCV001004122 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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