ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2225C>T (p.Thr742Ile) (rs767546791)

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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 RCV000237861 SCV000295920 likely benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455106 SCV000539522 uncertain significance not specified 2017-01-31 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Insufficient evidence for VUS5
Color RCV001186236 SCV001352606 uncertain significance Familial hypercholesterolemia 2020-01-27 criteria provided, single submitter clinical testing

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