ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3471T>C (p.Tyr1157=) (rs201128198)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776256 SCV000911514 likely benign Familial hypercholesterolemias 2017-07-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336589 SCV000427106 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379453 SCV000427107 uncertain significance Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000655171 SCV000777096 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2017-12-31 criteria provided, single submitter clinical testing

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