ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1230G>C (p.Arg410Ser) (rs879254839)

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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 RCV000237903 SCV000295312 likely pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Robarts Research Institute,Western University RCV000237903 SCV000782910 uncertain significance Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing

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