ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3851G>A (p.Arg1284Gln)

gnomAD frequency: 0.00003  dbSNP: rs372154910
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Robarts Research Institute, Western University RCV000660684 SCV000782850 uncertain significance Hypercholesterolemia, familial, 1 2018-01-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002477475 SCV002793485 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-11-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002477475 SCV003463342 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-10-22 criteria provided, single submitter clinical testing

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