ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr) (rs755757866)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237709 SCV000295143 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000237709 SCV000540782 likely pathogenic Familial hypercholesterolemia 1 2016-11-05 criteria provided, single submitter clinical testing Disrupt disulfide bridge between Cys340 and Cys352.
Fundacion Hipercolesterolemia Familiar RCV000237709 SCV000607545 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Color Health, Inc RCV000775249 SCV000909507 likely pathogenic Familial hypercholesterolemia 2020-03-25 criteria provided, single submitter clinical testing

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