ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.1280G>A (p.Arg427Gln)

gnomAD frequency: 0.00001  dbSNP: rs755407886
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256281 SCV000322829 uncertain significance Hypercholesterolemia, familial, 1 2016-03-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001837811 SCV001492934 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-05-24 criteria provided, single submitter clinical testing

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