ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.7405T>A (p.Phe2469Ile)

dbSNP: rs768221258
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000330340 SCV000427040 uncertain significance Hypercholesterolemia, familial, 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000375637 SCV000427041 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing

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