ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1834G>T (p.Ala612Ser)

dbSNP: rs879255042
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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 RCV000238442 SCV000295689 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
All of Us Research Program, National Institutes of Health RCV000238442 SCV005427625 uncertain significance Hypercholesterolemia, familial, 1 2024-09-23 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum RCV000238442 SCV000606528 benign Hypercholesterolemia, familial, 1 no assertion criteria provided research

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