ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.689G>T (p.Gly230Val)

dbSNP: rs755661819
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001837906 SCV000541935 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-12-02 criteria provided, single submitter clinical testing
Robarts Research Institute, Western University RCV000660696 SCV000782876 uncertain significance Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing

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