ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11442C>T (p.Thr3814=) (rs72654408)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001087841 SCV000777037 likely benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000771335 SCV000903611 likely benign Familial hypercholesterolemia 2018-03-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000655112 SCV001133385 likely benign not provided 2018-12-07 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000655112 SCV001156207 likely benign not provided 2018-09-01 criteria provided, single submitter clinical testing

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