ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.347_367del (p.Cys116_Ile122del)

dbSNP: rs879254484
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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 RCV000237238 SCV000294644 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation RCV000237238 SCV000540727 likely pathogenic Hypercholesterolemia, familial, 1 2016-11-05 criteria provided, single submitter clinical testing Disrupt disulfide bridge between Cys109 and Cys121.

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