ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2184del (p.Arg728fs)

dbSNP: rs879255157
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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 RCV000237422 SCV000295910 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Fundacion Hipercolesterolemia Familiar RCV000237422 SCV000607683 pathogenic Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research

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