ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1091G>A (p.Cys364Tyr) (rs879254788)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute,Western University RCV000408761 SCV000484766 likely pathogenic Familial hypercholesterolemia 1 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000408761 SCV000540792 likely pathogenic Familial hypercholesterolemia 1 2016-11-05 criteria provided, single submitter clinical testing Disrupt disulfide bridge between Cys364 and Cys377.

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