ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.-268G>T (rs17249134)

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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 RCV000237728 SCV000294358 likely benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Invitae RCV000858302 SCV000556785 benign Familial hypercholesterolemia 2019-12-31 criteria provided, single submitter clinical testing
Fundacion Hipercolesterolemia Familiar RCV000237728 SCV000607389 benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research

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