ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13320del (p.Glu4441fs)

dbSNP: rs750076573
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001258135 SCV001435023 uncertain significance Familial hypercholesterolemia criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486003 SCV002785244 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-08-02 criteria provided, single submitter clinical testing

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