ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.4216+4A>G

gnomAD frequency: 0.00001  dbSNP: rs886055588
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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 RCV000387964 SCV000427084 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000296008 SCV000427085 uncertain significance Hypercholesterolemia, familial, 1 2016-06-14 criteria provided, single submitter clinical testing

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