ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.285C>A (p.Cys95Ter)

dbSNP: rs139400379
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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 RCV000238158 SCV000294580 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000238158 SCV005415885 pathogenic Hypercholesterolemia, familial, 1 criteria provided, single submitter clinical testing PM2_Supporting+PVS1+PS4_Supporting

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