ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.905G>A (p.Cys302Tyr)

dbSNP: rs879254715
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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 RCV000237414 SCV000295042 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Fundacion Hipercolesterolemia Familiar RCV000237414 SCV000607520 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine RCV001293735 SCV001482445 likely pathogenic Familial hypercholesterolemia criteria provided, single submitter research

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