ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.9387T>G (p.Pro3129=)

dbSNP: rs769437017
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute, Western University RCV000660707 SCV000782895 likely benign Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001838088 SCV001615315 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2020-08-14 criteria provided, single submitter clinical testing

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