ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.6922G>A (p.Glu2308Lys)

dbSNP: rs1304703582
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256897 SCV001433398 uncertain significance Hypercholesterolemia, familial, 1 2020-01-24 criteria provided, single submitter clinical testing

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