ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1359-6C>T

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000497075 SCV000588578 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Color Health, Inc RCV001189132 SCV001356344 likely benign Familial hypercholesterolemia 2019-12-10 criteria provided, single submitter clinical testing
Invitae RCV001189132 SCV001633708 likely benign Familial hypercholesterolemia 2020-10-10 criteria provided, single submitter clinical testing

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