ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.607A>G (p.Ile203Val) (rs72653059)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000776115 SCV000910989 likely benign Familial hypercholesterolemias 2017-07-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000286449 SCV000427171 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341334 SCV000427172 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000559965 SCV000659292 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2017-11-27 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000286449 SCV000782870 likely benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing

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