ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.418G>T (p.Glu140Ter)

gnomAD frequency: 0.00001  dbSNP: rs748944640
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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 RCV000237501 SCV000294699 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Iberoamerican FH Network RCV000237501 SCV000748162 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II RCV000237501 SCV001653591 pathogenic Hypercholesterolemia, familial, 1 2021-05-24 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237501 SCV000606112 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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