ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2988C>T (p.Thr996=) (rs137875230)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526840 SCV000659278 likely benign Hypercholesterolemia, autosomal dominant, type B; Hypobetalipoproteinemia, familial, 1 2017-06-28 criteria provided, single submitter clinical testing
Color RCV000771244 SCV000903345 likely benign Familial hypercholesterolemias 2017-10-19 criteria provided, single submitter clinical testing

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