ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.694+25C>T (rs199540175)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606160 SCV000730506 likely benign not specified 2018-01-14 no assertion criteria provided clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000238457 SCV000556783 benign Familial hypercholesterolemia 2017-04-12 criteria provided, single submitter clinical testing
LDLR-LOVD, British Heart Foundation RCV000238457 SCV000294922 likely benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000238457 SCV000588514 uncertain significance Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research

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