ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1066G>C (p.Asp356His)

dbSNP: rs767767730
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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 RCV000238556 SCV000295196 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation RCV000238556 SCV000540790 likely pathogenic Hypercholesterolemia, familial, 1 2016-11-05 criteria provided, single submitter clinical testing
Fundacion Hipercolesterolemia Familiar RCV000238556 SCV000607556 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research

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