ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.129G>C (p.Ala43=) (rs12720850)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000771117 SCV000902823 benign Familial hypercholesterolemias 2017-07-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349686 SCV000427192 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000401461 SCV000427193 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000464739 SCV000554798 benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing

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