ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13183G>A (p.Gly4395Ser)

gnomAD frequency: 0.00017  dbSNP: rs151333262
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000382580 SCV000426898 uncertain significance Familial hypobetalipoproteinemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000290575 SCV000426899 uncertain significance Hypercholesterolemia, familial, 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001837830 SCV000777018 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-19 criteria provided, single submitter clinical testing

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