ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.906C>G (p.Cys302Trp)

dbSNP: rs879254716
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237924 SCV000295043 likely pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Robarts Research Institute, Western University RCV000237924 SCV000484691 likely pathogenic Hypercholesterolemia, familial, 1 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000237924 SCV004100718 pathogenic Hypercholesterolemia, familial, 1 2023-10-16 criteria provided, single submitter clinical testing Criteria applied: PM5_STR,PS4_MOD,PM1,PM2_SUP,PP3
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences RCV000237924 SCV001467724 pathogenic Hypercholesterolemia, familial, 1 no assertion criteria provided research

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