ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.865T>C (p.Cys289Arg) (rs879254697)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Iberoamerican FH Network RCV000237446 SCV000748042 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
LDLR-LOVD, British Heart Foundation RCV000237446 SCV000295019 likely pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only

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