ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.751G>A (p.Ala251Thr) (rs61741625)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476752 SCV000554794 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2017-12-13 criteria provided, single submitter clinical testing
Color RCV000583623 SCV000687260 likely benign Familial hypercholesterolemia 2017-09-18 criteria provided, single submitter clinical testing
GeneDx RCV000606455 SCV000720984 likely benign not specified 2017-07-11 criteria provided, single submitter 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000606455 SCV000857803 likely benign not specified 2017-11-17 criteria provided, single submitter clinical testing
Color RCV000771162 SCV000903043 likely benign Familial hypercholesterolemias 2018-01-05 criteria provided, single submitter clinical testing

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