ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12699G>A (p.Ser4233=) (rs56675344)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554133 SCV000659263 benign Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000775430 SCV000909793 likely benign Familial hypercholesterolemia 2018-01-22 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001283871 SCV001469329 benign not specified 2020-06-13 criteria provided, single submitter clinical testing

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