ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.232del (p.Arg78fs)

dbSNP: rs879254442
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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 RCV000237708 SCV000294542 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Fundacion Hipercolesterolemia Familiar RCV000237708 SCV000607432 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000237708 SCV000606045 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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