ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.940+9C>T (rs17242906)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776471 SCV000912021 benign Familial hypercholesterolemias 2017-07-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397562 SCV000410528 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000397562 SCV000752442 benign Familial hypercholesterolemia 2018-01-12 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000397562 SCV000588528 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research

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