ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3096C>G (p.Thr1032=)

gnomAD frequency: 0.00003  dbSNP: rs757565957
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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 RCV000660679 SCV000782837 likely benign Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767916 SCV004569364 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-02-01 criteria provided, single submitter clinical testing

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