ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.526_533dup (p.Asp178fs)

dbSNP: rs879254562
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237467 SCV000294771 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Institute of Human Genetics, University of Leipzig Medical Center RCV000237467 SCV001950091 pathogenic Hypercholesterolemia, familial, 1 2021-07-13 criteria provided, single submitter clinical testing

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