ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.116_117delinsAA (p.Cys39Ter)

dbSNP: rs879254411
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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 RCV000237239 SCV000294472 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237239 SCV000599312 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter curation
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II RCV000237239 SCV001653583 pathogenic Hypercholesterolemia, familial, 1 2021-05-24 criteria provided, single submitter clinical testing Reduced activity, in stimulated T-lymphocytes and EBV-transformed B-lymphocytes.

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