ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12381C>T (p.Asp4127=) (rs145704672)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001078780 SCV001005113 likely benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2019-12-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000864324 SCV001133391 likely benign not provided 2019-04-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000864324 SCV001335088 likely benign not provided 2020-03-01 criteria provided, single submitter clinical testing
Color RCV001187323 SCV001354093 likely benign Familial hypercholesterolemia 2018-12-21 criteria provided, single submitter clinical testing

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