ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1715G>A (p.Ser572Asn)

dbSNP: rs879254997
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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 RCV000238469 SCV000295609 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation RCV000238469 SCV000540900 likely benign Hypercholesterolemia, familial, 1 2017-03-22 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000238469 SCV000606497 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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