ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.5913G>A (p.Leu1971=) (rs374251542)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229013 SCV000284770 likely benign not provided 2016-02-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323520 SCV000427060 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380388 SCV000427061 uncertain significance Familial hypercholesterolemia 1 2016-06-14 criteria provided, single submitter clinical testing
Color RCV000771568 SCV000904149 likely benign Familial hypercholesterolemia 2018-07-08 criteria provided, single submitter clinical testing

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