ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.676T>C (p.Ser226Pro) (rs879254635)

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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 RCV000237302 SCV000294894 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000237302 SCV000540750 likely pathogenic Familial hypercholesterolemia 1 2016-11-05 criteria provided, single submitter clinical testing Disrupt SDE motif. SDE bind structural Ca2+.
Fundacion Hipercolesterolemia Familiar RCV000237302 SCV000607490 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research

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