ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.581C>T (p.Thr194Met) (rs13306198)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000347148 SCV000427175 likely benign Familial hypercholesterolemia 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000391309 SCV000427176 likely benign Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000559032 SCV000659289 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Color RCV000347148 SCV000687251 benign Familial hypercholesterolemia 1 2017-06-26 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000347148 SCV000782867 likely benign Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
Color RCV000771089 SCV000902649 benign Familial hypercholesterolemia 2017-06-22 criteria provided, single submitter clinical testing

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