ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.8889C>T (p.Ile2963=) (rs72653097)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776174 SCV000911282 benign Familial hypercholesterolemias 2017-07-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300251 SCV000427011 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354991 SCV000427012 uncertain significance Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000655165 SCV000777090 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2017-11-07 criteria provided, single submitter clinical testing

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