ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1004G>T (p.Gly335Val) (rs869320650)

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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 RCV000238578 SCV000295130 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Fundacion Hipercolesterolemia Familiar RCV000238578 SCV000607542 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000238578 SCV000606292 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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